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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   SGCD_chr5_156322164_156772788  SGCD_chr5_156322164_156772788 (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 6444
ensemblid ENSG00000170624.14
hgncid 10807
symbol SGCD
name sarcoglycan delta
refseq_nuc NM_000337.6
refseq_prot NP_000328.2
ensembl_nuc ENST00000337851.9
ensembl_prot ENSP00000338343.4
mane_status MANE Select
chr chr5
start 156327164
end 156767788
strand +
ver v1.2
region chr5:156327164-156767788
region5000 chr5:156322164-156772788
regionname0 SGCD_chr5_156327164_156767788
regionname5000 SGCD_chr5_156322164_156772788

ahapid grch38/
chm13v2
alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 290 146 65 24 42 3 10 28 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0002 0/0 290 2 1 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0003 0/0 290 1 0 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0004 0/0 290 1 0 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788

chapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/0 873 81 42 18 12 1 7 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
c0002 0/1 873 62 20 6 30 2 3 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
c0003 0/0 873 2 1 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
c0004 0/0 873 2 2 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
c0005 0/0 873 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
c0006 0/0 873 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
c0007 0/0 873 1 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788

thapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 8511 21 13 3 3 0 2 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0002 0/0 8511 14 2 0 11 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0003 0/0 8511 8 2 2 0 1 3 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0004 0/0 8511 7 2 3 2 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0005 1/0 8511 6 0 1 2 1 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0006 0/0 8513 5 5 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0007 0/0 8511 5 0 0 5 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0008 0/0 8511 5 0 0 4 1 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0009 0/0 8512 4 4 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0010 0/0 8513 4 0 0 4 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0011 0/1 8517 4 1 1 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0012 0/0 8511 3 2 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0013 0/0 8511 3 3 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0014 0/0 8516 3 1 2 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0015 0/0 8510 3 1 0 2 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0016 0/0 8512 2 0 2 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0017 0/0 8512 2 1 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0018 0/0 8511 2 2 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0019 0/0 8511 2 2 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0020 0/0 8517 2 1 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0021 0/0 8516 2 1 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0022 0/0 8516 2 2 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0023 0/0 8512 2 1 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0024 0/0 8516 2 0 1 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0025 0/0 8511 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0026 0/0 8512 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0027 0/0 8511 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0028 0/0 8513 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0029 0/0 8514 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0030 0/0 8511 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0031 0/0 8511 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0032 0/0 8512 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0033 0/0 8511 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0034 0/0 8510 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0035 0/0 8510 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0036 0/0 8511 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0037 0/0 8511 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0038 0/0 8511 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0039 0/0 8512 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0040 0/0 8511 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0041 0/0 8511 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0042 0/0 8512 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0043 0/0 8511 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0044 0/0 8512 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0045 0/0 8517 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0046 0/0 8515 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0047 0/0 8512 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0048 0/0 8516 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0049 0/0 8513 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0050 0/0 8512 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0051 0/0 8511 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0052 0/0 8513 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0053 0/0 8511 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0054 0/0 8511 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0055 0/0 8512 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0056 0/0 8510 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0057 0/0 8511 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0058 0/0 8517 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0059 0/0 8517 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0060 0/0 8513 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
t0061 0/0 8511 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788

ghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0002 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0003 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0004 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0005 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0006 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0007 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0008 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0009 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0010 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0011 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0012 0/0 1 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0013 0/0 1 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0014 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0015 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0016 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0017 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0018 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0019 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0020 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0021 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0022 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0023 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0024 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0025 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0026 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0027 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0028 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0029 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0030 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0031 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0032 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0033 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0034 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0035 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0036 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0037 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0038 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0039 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0040 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0041 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0042 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0043 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0044 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0045 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0046 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0047 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0048 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0049 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0050 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0051 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0052 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0053 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0054 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0055 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0056 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0057 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0058 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0059 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0060 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0061 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0062 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0063 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0064 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0065 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0066 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0067 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0068 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0069 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0070 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0071 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0072 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0073 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0074 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0075 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0076 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0077 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0078 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0079 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0080 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0081 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0082 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0083 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0084 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0085 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0086 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0087 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0088 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0089 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0090 0/1 1 0 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0091 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0092 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0093 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0094 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0095 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0096 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0097 0/0 1 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0098 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0099 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0100 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0101 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0102 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0103 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0104 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0105 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0106 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0107 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0108 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0109 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0110 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0111 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0112 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0113 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0114 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0115 0/0 1 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0116 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0117 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0118 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0119 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0120 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0121 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0122 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0123 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0124 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0125 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0126 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0127 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0128 1/0 1 0 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0129 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0130 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0131 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0132 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0133 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0134 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0135 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0136 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0137 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0138 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0139 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0140 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0141 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0142 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0143 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0144 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0145 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0146 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0147 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0148 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0149 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
g0150 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788

achapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/0 873 81 42 18 12 1 7 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002 0/1 873 62 20 6 30 2 3 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0004 0/0 873 2 2 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0006 0/0 873 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0002c0003 0/0 873 2 1 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0003c0005 0/0 873 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0004c0007 0/0 873 1 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788

acthapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 9383 19 12 3 3 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0003 0/0 9383 7 1 2 0 1 3 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0005 1/0 9383 4 0 1 2 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0006 0/0 9385 5 5 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0007 0/0 9383 5 0 0 5 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0009 0/0 9384 4 4 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0012 0/0 9383 3 2 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0013 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0014 0/0 9388 3 1 2 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0016 0/0 9384 2 0 2 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0018 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0020 0/0 9389 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0021 0/0 9388 2 1 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0022 0/0 9388 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0025 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0026 0/0 9384 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0027 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0029 0/0 9386 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0030 0/0 9383 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0031 0/0 9383 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0032 0/0 9384 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0033 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0034 0/0 9382 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0035 0/0 9382 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0036 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0037 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0038 0/0 9383 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0039 0/0 9384 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0040 0/0 9383 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0041 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0042 0/0 9384 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0043 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0045 0/0 9389 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0046 0/0 9387 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0047 0/0 9384 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0048 0/0 9388 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0001t0049 0/0 9385 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0002 0/0 9383 14 2 0 11 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0004 0/0 9383 7 2 3 2 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0005 0/0 9383 2 0 0 0 1 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0008 0/0 9383 5 0 0 4 1 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0010 0/0 9385 4 0 0 4 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0011 0/1 9389 4 1 1 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0013 0/0 9383 2 2 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0015 0/0 9382 3 1 0 2 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0019 0/0 9383 2 2 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0022 0/0 9388 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0023 0/0 9384 2 1 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0024 0/0 9388 2 0 1 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0028 0/0 9385 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0044 0/0 9384 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0050 0/0 9384 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0051 0/0 9383 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0052 0/0 9385 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0053 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0054 0/0 9383 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0055 0/0 9384 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0056 0/0 9382 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0057 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0058 0/0 9389 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0059 0/0 9389 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0060 0/0 9385 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0002t0061 0/0 9383 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0004t0001 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0004t0017 0/0 9384 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0001c0006t0018 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0002c0003t0003 0/0 9383 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0002c0003t0017 0/0 9384 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0003c0005t0001 0/0 9383 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788
a0004c0007t0020 0/0 9389 1 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD copy fasta chr5 156322164 156772788

actghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0008 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0015 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0019 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0023 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0025 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0050 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0052 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0054 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0058 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0068 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0116 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0117 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0122 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0133 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0143 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0146 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0147 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0001g0150 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0003g0013 0/0 1 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0003g0018 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0003g0022 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0003g0056 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0003g0119 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0003g0125 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0003g0136 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0005g0047 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0005g0128 1/0 1 0 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0005g0129 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0005g0130 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0006g0037 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0006g0038 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0006g0040 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0006g0041 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0006g0066 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0007g0123 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0007g0124 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0007g0126 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0007g0134 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0007g0138 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0009g0036 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0009g0049 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0009g0067 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0009g0142 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0012g0010 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0012g0059 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0012g0060 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0013g0057 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0014g0048 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0014g0055 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0014g0132 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0016g0120 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0016g0144 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0018g0039 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0020g0017 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0021g0027 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0021g0046 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0022g0064 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0025g0035 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0026g0016 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0027g0011 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0029g0024 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0030g0135 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0031g0021 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0032g0020 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0033g0141 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0034g0118 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0035g0127 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0036g0043 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0037g0042 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0038g0044 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0039g0004 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0040g0131 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0041g0028 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0042g0065 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0043g0139 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0045g0137 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0046g0121 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0047g0003 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0048g0053 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0001t0049g0149 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0061 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0062 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0069 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0070 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0075 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0077 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0080 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0087 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0093 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0095 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0098 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0102 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0107 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0002g0109 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0004g0079 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0004g0088 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0004g0092 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0004g0104 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0004g0106 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0004g0113 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0004g0114 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0005g0082 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0005g0097 0/0 1 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0008g0006 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0008g0076 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0008g0101 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0008g0105 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0008g0115 0/0 1 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0010g0001 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0010g0005 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0010g0094 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0010g0108 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0011g0051 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0011g0083 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0011g0084 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0011g0090 0/1 1 0 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0013g0030 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0013g0032 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0015g0078 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0015g0081 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0015g0086 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0019g0031 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0019g0033 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0022g0029 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0023g0071 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0023g0112 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0024g0063 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0024g0100 0/0 1 0 1 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0028g0034 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0044g0026 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0050g0072 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0051g0099 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0052g0111 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0053g0085 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0054g0073 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0055g0091 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0056g0096 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0057g0110 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0058g0089 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0059g0002 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0060g0074 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0002t0061g0103 0/0 1 0 0 1 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0004t0001g0009 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0004t0017g0007 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0001c0006t0018g0145 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0002c0003t0003g0140 0/0 1 1 0 0 0 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0002c0003t0017g0014 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0003c0005t0001g0148 0/0 1 0 0 0 0 1 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
a0004c0007t0020g0012 0/0 1 0 0 0 1 0 SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788

sampleid ID
haplotypeid
ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00558 hp1 a0001 c0002 t0002 g0062 EAS CHS SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG00558 hp2 a0001 c0002 t0055 g0091 EAS CHS SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG00639 hp1 a0001 c0002 t0004 g0088 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG00639 hp2 a0001 c0001 t0048 g0053 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01070 hp1 a0001 c0001 t0014 g0132 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01070 hp2 a0001 c0001 t0003 g0056 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01071 hp1 a0001 c0001 t0016 g0120 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01071 hp2 a0001 c0002 t0004 g0113 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01081 hp1 a0001 c0001 t0001 g0019 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01081 hp2 a0001 c0001 t0003 g0125 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01109 hp1 a0001 c0001 t0040 g0131 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01109 hp2 a0001 c0001 t0001 g0068 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01169 hp1 a0001 c0001 t0014 g0055 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01169 hp2 a0001 c0001 t0035 g0127 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01243 hp1 a0001 c0001 t0016 g0144 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01243 hp2 a0001 c0002 t0011 g0084 AMR PUR SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01256 hp1 a0001 c0001 t0021 g0046 AMR CLM SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01256 hp2 a0001 c0001 t0034 g0118 AMR CLM SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01258 hp1 a0001 c0002 t0024 g0100 AMR CLM SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01258 hp2 a0001 c0001 t0005 g0047 AMR CLM SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01261 hp1 a0001 c0002 t0004 g0114 AMR CLM SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01261 hp2 a0001 c0001 t0046 g0121 AMR CLM SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01516 hp1 a0001 c0002 t0008 g0115 EUR IBS SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01516 hp2 a0004 c0007 t0020 g0012 EUR IBS SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01891 hp1 a0001 c0001 t0045 g0137 AFR ACB SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01891 hp2 a0001 c0002 t0004 g0106 AFR ACB SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01978 hp1 a0001 c0001 t0001 g0133 AMR PEL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01978 hp2 a0001 c0001 t0031 g0021 AMR PEL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01981 hp1 a0001 c0001 t0012 g0010 AMR PEL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG01981 hp2 a0001 c0002 t0023 g0071 AMR PEL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02040 hp1 a0001 c0002 t0008 g0006 EAS KHV SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02040 hp2 a0001 c0002 t0002 g0080 EAS KHV SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02055 hp1 a0001 c0002 t0050 g0072 AFR ACB SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02055 hp2 a0001 c0001 t0001 g0116 AFR ACB SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02056 hp1 a0001 c0001 t0032 g0020 EAS KHV SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02056 hp2 a0001 c0002 t0004 g0104 EAS KHV SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02071 hp1 a0001 c0002 t0002 g0109 EAS KHV SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02071 hp2 a0001 c0002 t0011 g0051 EAS KHV SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02083 hp1 a0001 c0001 t0038 g0044 EAS KHV SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02083 hp2 a0001 c0001 t0001 g0122 EAS KHV SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02129 hp1 a0001 c0002 t0002 g0107 EAS KHV SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02129 hp2 a0001 c0001 t0001 g0015 EAS KHV SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02145 hp1 a0001 c0001 t0001 g0146 AFR ACB SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02145 hp2 a0001 c0002 t0058 g0089 AFR ACB SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02155 hp1 a0001 c0002 t0015 g0078 EAS CDX SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02155 hp2 a0001 c0001 t0007 g0126 EAS CDX SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02257 hp1 a0001 c0006 t0018 g0145 AFR ACB SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02257 hp2 a0001 c0001 t0001 g0052 AFR ACB SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02258 hp1 a0001 c0002 t0011 g0083 AFR ACB SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02258 hp2 a0001 c0001 t0006 g0037 AFR ACB SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02615 hp1 a0001 c0001 t0041 g0028 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02615 hp2 a0001 c0001 t0001 g0147 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02622 hp1 a0001 c0001 t0020 g0017 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02622 hp2 a0001 c0001 t0001 g0054 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02630 hp1 a0001 c0001 t0043 g0139 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02630 hp2 a0001 c0004 t0017 g0007 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02698 hp1 a0001 c0001 t0003 g0136 SAS PJL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02698 hp2 a0001 c0001 t0026 g0016 SAS PJL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02717 hp1 a0001 c0002 t0028 g0034 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02717 hp2 a0001 c0001 t0001 g0117 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02723 hp1 a0001 c0001 t0014 g0048 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02723 hp2 a0001 c0001 t0009 g0067 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02735 hp1 a0003 c0005 t0001 g0148 SAS PJL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02735 hp2 a0001 c0001 t0003 g0119 SAS PJL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02809 hp1 a0001 c0001 t0006 g0038 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02809 hp2 a0001 c0002 t0015 g0086 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02895 hp1 a0001 c0001 t0009 g0036 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02895 hp2 a0001 c0001 t0012 g0059 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02897 hp1 a0001 c0001 t0012 g0060 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02897 hp2 a0001 c0001 t0003 g0022 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02922 hp1 a0001 c0004 t0001 g0009 AFR ESN SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02922 hp2 a0001 c0001 t0042 g0065 AFR ESN SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02965 hp1 a0001 c0002 t0060 g0074 AFR ESN SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02965 hp2 a0001 c0001 t0021 g0027 AFR ESN SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02970 hp1 a0001 c0001 t0006 g0066 AFR ESN SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02970 hp2 a0001 c0002 t0013 g0030 AFR ESN SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03041 hp1 a0001 c0002 t0019 g0031 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03041 hp2 a0001 c0001 t0022 g0064 AFR GWD SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03098 hp1 a0001 c0002 t0023 g0112 AFR MSL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03098 hp2 a0001 c0001 t0029 g0024 AFR MSL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03130 hp1 a0001 c0002 t0013 g0032 AFR ESN SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03130 hp2 a0001 c0001 t0049 g0149 AFR ESN SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03139 hp1 a0001 c0001 t0001 g0025 AFR ESN SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03139 hp2 a0001 c0001 t0009 g0049 AFR ESN SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03225 hp1 a0001 c0001 t0013 g0057 AFR MSL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03225 hp2 a0001 c0001 t0033 g0141 AFR MSL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03239 hp1 a0001 c0002 t0002 g0095 SAS PJL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03239 hp2 a0001 c0001 t0030 g0135 SAS PJL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03453 hp1 a0001 c0002 t0053 g0085 AFR MSL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03453 hp2 a0001 c0002 t0052 g0111 AFR MSL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03486 hp1 a0001 c0001 t0001 g0150 AFR MSL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03486 hp2 a0001 c0002 t0002 g0061 AFR MSL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03490 hp1 a0001 c0001 t0003 g0018 SAS PJL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03490 hp2 a0001 c0002 t0005 g0082 SAS PJL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03579 hp1 a0001 c0001 t0001 g0143 AFR MSL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03579 hp2 a0001 c0001 t0006 g0041 AFR MSL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03704 hp1 a0001 c0002 t0056 g0096 SAS PJL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03704 hp2 a0001 c0001 t0001 g0023 SAS PJL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG04115 hp1 a0001 c0001 t0039 g0004 SAS STU SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG04115 hp2 a0002 c0003 t0017 g0014 SAS STU SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18522 hp1 a0001 c0001 t0001 g0008 AFR YRI SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18522 hp2 a0001 c0001 t0001 g0050 AFR YRI SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18906 hp1 a0001 c0001 t0036 g0043 AFR YRI SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18906 hp2 a0001 c0002 t0057 g0110 AFR YRI SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18953 hp1 a0001 c0002 t0010 g0005 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18953 hp2 a0001 c0002 t0002 g0093 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18959 hp1 a0001 c0002 t0059 g0002 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18959 hp2 a0001 c0002 t0008 g0101 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18964 hp1 a0001 c0002 t0002 g0098 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18964 hp2 a0001 c0002 t0004 g0092 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18966 hp1 a0001 c0001 t0007 g0124 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18966 hp2 a0001 c0002 t0002 g0077 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18985 hp1 a0001 c0002 t0002 g0070 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18985 hp2 a0001 c0001 t0007 g0134 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18990 hp1 a0001 c0002 t0054 g0073 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA18990 hp2 a0001 c0002 t0010 g0001 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19002 hp1 a0001 c0002 t0010 g0108 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19002 hp2 a0001 c0001 t0001 g0045 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19003 hp1 a0001 c0002 t0024 g0063 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19003 hp2 a0001 c0002 t0015 g0081 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19009 hp1 a0001 c0001 t0005 g0129 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19009 hp2 a0001 c0002 t0002 g0075 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19010 hp1 a0001 c0002 t0008 g0076 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19010 hp2 a0001 c0002 t0010 g0094 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19011 hp1 a0001 c0002 t0061 g0103 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19011 hp2 a0001 c0001 t0007 g0123 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19030 hp1 a0001 c0001 t0027 g0011 AFR LWK SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19030 hp2 a0001 c0001 t0018 g0039 AFR LWK SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19043 hp1 a0001 c0001 t0009 g0142 AFR LWK SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19043 hp2 a0001 c0001 t0037 g0042 AFR LWK SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19057 hp1 a0001 c0002 t0002 g0087 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19057 hp2 a0001 c0001 t0005 g0130 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19066 hp1 a0001 c0001 t0007 g0138 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19066 hp2 a0001 c0002 t0051 g0099 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19090 hp1 a0001 c0002 t0008 g0105 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19090 hp2 a0001 c0002 t0002 g0102 EAS JPT SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19240 hp1 a0001 c0002 t0019 g0033 AFR YRI SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA19240 hp2 a0001 c0002 t0002 g0069 AFR YRI SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA20129 hp1 a0001 c0001 t0047 g0003 AFR ASW SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA20129 hp2 a0001 c0001 t0025 g0035 AFR ASW SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA20805 hp1 a0001 c0001 t0003 g0013 EUR TSI SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA20805 hp2 a0001 c0002 t0005 g0097 EUR TSI SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02559 hp1 a0002 c0003 t0003 g0140 AFR ACB SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG02559 hp2 a0001 c0001 t0001 g0058 AFR ACB SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03471 hp1 a0001 c0001 t0006 g0040 AFR MSL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
HG03471 hp2 a0001 c0002 t0044 g0026 AFR MSL SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA20300 hp1 a0001 c0002 t0004 g0079 AFR USA SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
NA20300 hp2 a0001 c0002 t0022 g0029 AFR USA SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
homoSapiens_chm13v2 hp1 a0001 c0002 t0011 g0090 REF REF SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788
homoSapiens_grch38 hp1 a0001 c0001 t0005 g0128 REF REF SGCD_chr5_156322164_156772788 SGCD chr5 156322164 156772788

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
chr5:156344500 G
G
C
C
1 a0003
a0003
1 HG02735.hp1
HG02735.hp1
missense_variant MODERATE c.15G>C
c.15G>C
p.Glu5Asp
p.Glu5Asp
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/9 127/9383 15/873 5/290 chr5 156344500
chr5:156508698 G
G
A
A
1 a0002
a0002
2 HG02559.hp1
HG04115.hp2
HG02559.hp1
HG04115.hp2
missense_variant MODERATE c.290G>A
c.290G>A
p.Arg97Gln
p.Arg97Gln
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/9 402/9383 290/873 97/290 chr5 156508698
chr5:156759284 C
C
T
T
1 a0004
a0004
1 HG01516.hp2
HG01516.hp2
missense_variant MODERATE c.767C>T
c.767C>T
p.Thr256Met
p.Thr256Met
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 879/9383 767/873 256/290 chr5 156759284

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
chr5:156344569 T
T
C
C
1 a0001c0002
a0001c0002
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
synonymous_variant LOW c.84T>C
c.84T>C
p.Tyr28Tyr
p.Tyr28Tyr
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/9 196/9383 84/873 28/290 chr5 156344569
chr5:156594954 T
T
C
C
1 a0001c0006
a0001c0006
1 HG02257.hp1
HG02257.hp1
synonymous_variant LOW c.405T>C
c.405T>C
p.Tyr135Tyr
p.Tyr135Tyr
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/9 517/9383 405/873 135/290 chr5 156594954
chr5:156647468 G
G
A
A
1 a0001c0004
a0001c0004
2 HG02630.hp2
HG02922.hp1
HG02630.hp2
HG02922.hp1
synonymous_variant LOW c.507G>A
c.507G>A
p.Ala169Ala
p.Ala169Ala
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/9 619/9383 507/873 169/290 chr5 156647468

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
chr5:156327182 C
C
G
G
20 a0001c0002t0002
a0001c0002t0004
a0001c0002t0008
others(17): Show 
a0001c0002t0002
a0001c0002t0004
a0001c0002t0008
a0001c0002t0010
a0001c0002t0011
a0001c0002t0015
a0001c0002t0023
a0001c0002t0024
a0001c0002t0050
a0001c0002t0051
a0001c0002t0052
a0001c0002t0053
a0001c0002t0054
a0001c0002t0055
a0001c0002t0056
a0001c0002t0057
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0001c0002t0061
53 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(50): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02809.hp2
HG02965.hp1
HG03098.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
5_prime_UTR_variant MODIFIER c.-94C>G
c.-94C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/9 2395 chr5 156327182
chr5:156759540 G
G
T
T
1 a0001c0002t0061
a0001c0002t0061
1 NA19011.hp1
NA19011.hp1
3_prime_UTR_variant MODIFIER c.*150G>T
c.*150G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 150 chr5 156759540
chr5:156759750 A
A
G
G
17 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(14): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
24 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(21): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*360A>G
c.*360A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 360 chr5 156759750
chr5:156759753 C
C
T
T
8 a0001c0001t0012
a0001c0001t0013
a0001c0001t0041
others(5): Show 
a0001c0001t0012
a0001c0001t0013
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0002t0013
a0001c0002t0019
a0001c0002t0057
12 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(9): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA18906.hp2
NA19240.hp1
3_prime_UTR_variant MODIFIER c.*363C>T
c.*363C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 363 chr5 156759753
chr5:156760171 G
G
C
C
31 a0001c0001t0009
a0001c0001t0012
a0001c0001t0013
others(28): Show 
a0001c0001t0009
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0025
a0001c0001t0026
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0010
a0001c0002t0011
a0001c0002t0013
a0001c0002t0019
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0050
a0001c0002t0051
a0001c0002t0057
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
48 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(45): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02055.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp2
NA19043.hp1
NA19066.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*781G>C
c.*781G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 781 chr5 156760171
chr5:156760213 G
G
A
A
1 a0001c0001t0027
a0001c0001t0027
1 NA19030.hp1
NA19030.hp1
3_prime_UTR_variant MODIFIER c.*823G>A
c.*823G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 823 chr5 156760213
chr5:156760222 G
G
A
A
1 a0001c0001t0041
a0001c0001t0041
1 HG02615.hp1
HG02615.hp1
3_prime_UTR_variant MODIFIER c.*832G>A
c.*832G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 832 chr5 156760222
chr5:156760465 C
C
G
G
1 a0001c0001t0027
a0001c0001t0027
1 NA19030.hp1
NA19030.hp1
3_prime_UTR_variant MODIFIER c.*1075C>G
c.*1075C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 1075 chr5 156760465
chr5:156760474 T
T
C
C
1 a0001c0001t0025
a0001c0001t0025
1 NA20129.hp2
NA20129.hp2
3_prime_UTR_variant MODIFIER c.*1084T>C
c.*1084T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 1084 chr5 156760474
chr5:156760502 G
G
A
A
1 a0001c0002t0028
a0001c0002t0028
1 HG02717.hp1
HG02717.hp1
3_prime_UTR_variant MODIFIER c.*1112G>A
c.*1112G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 1112 chr5 156760502
chr5:156760763 A
A
G
G
17 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(14): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
24 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(21): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*1373A>G
c.*1373A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 1373 chr5 156760763
chr5:156760873 G
G
A
A
1 a0001c0001t0025
a0001c0001t0025
1 NA20129.hp2
NA20129.hp2
3_prime_UTR_variant MODIFIER c.*1483G>A
c.*1483G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 1483 chr5 156760873
chr5:156760917 C
C
T
T
10 a0001c0001t0003
a0001c0001t0007
a0001c0001t0038
others(7): Show 
a0001c0001t0003
a0001c0001t0007
a0001c0001t0038
a0001c0001t0039
a0001c0001t0040
a0001c0002t0004
a0001c0002t0054
a0001c0002t0055
a0001c0002t0056
a0002c0003t0003
26 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(23): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02155.hp2
HG02559.hp1
HG02698.hp1
HG02735.hp2
HG02897.hp2
HG03490.hp1
HG03704.hp1
HG04115.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp1
NA19011.hp2
NA19066.hp1
NA20300.hp1
NA20805.hp1
3_prime_UTR_variant MODIFIER c.*1527C>T
c.*1527C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 1527 chr5 156760917
chr5:156761008 T
T
C
C
26 a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
others(23): Show 
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0025
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0013
a0001c0002t0019
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0057
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
37 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(34): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*1618T>C
c.*1618T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 1618 chr5 156761008
chr5:156761297 G
G
A
A
1 a0001c0002t0058
a0001c0002t0058
1 HG02145.hp2
HG02145.hp2
3_prime_UTR_variant MODIFIER c.*1907G>A
c.*1907G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 1907 chr5 156761297
chr5:156761297 G
G
T
T
1 a0001c0001t0037
a0001c0001t0037
1 NA19043.hp2
NA19043.hp2
3_prime_UTR_variant MODIFIER c.*1907G>T
c.*1907G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 1907 chr5 156761297
chr5:156761755 T
T
C
C
17 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(14): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
24 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(21): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*2365T>C
c.*2365T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 2365 chr5 156761755
chr5:156762102 T
T
C
C
17 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(14): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
24 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(21): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*2712T>C
c.*2712T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 2712 chr5 156762102
chr5:156762142 C
C
T
T
1 a0001c0001t0040
a0001c0001t0040
1 HG01109.hp1
HG01109.hp1
3_prime_UTR_variant MODIFIER c.*2752C>T
c.*2752C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 2752 chr5 156762142
chr5:156762145 C
C
T
T
2 a0001c0001t0036
a0001c0002t0053
a0001c0001t0036
a0001c0002t0053
2 HG03453.hp1
NA18906.hp1
HG03453.hp1
NA18906.hp1
3_prime_UTR_variant MODIFIER c.*2755C>T
c.*2755C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 2755 chr5 156762145
chr5:156762312 T
T
G
G
1 a0001c0001t0014
a0001c0001t0014
3 HG01070.hp1
HG01169.hp1
HG02723.hp1
HG01070.hp1
HG01169.hp1
HG02723.hp1
3_prime_UTR_variant MODIFIER c.*2922T>G
c.*2922T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 2922 chr5 156762312
chr5:156762682 A
A
G
G
2 a0001c0001t0022
a0001c0002t0022
a0001c0001t0022
a0001c0002t0022
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
3_prime_UTR_variant MODIFIER c.*3292A>G
c.*3292A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 3292 chr5 156762682
chr5:156762803 G
G
C
C
12 a0001c0001t0020
a0001c0001t0021
a0001c0001t0045
others(9): Show 
a0001c0001t0020
a0001c0001t0021
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0002t0011
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0004c0007t0020
17 HG00639.hp2
HG01243.hp2
HG01256.hp1
others(14): Show 
HG00639.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02965.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*3413G>C
c.*3413G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 3413 chr5 156762803
chr5:156762838 T
T
C
C
1 a0001c0002t0044
a0001c0002t0044
1 HG03471.hp2
HG03471.hp2
3_prime_UTR_variant MODIFIER c.*3448T>C
c.*3448T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 3448 chr5 156762838
chr5:156763040 G
G
T
T
16 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(13): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0025
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
23 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(20): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*3650G>T
c.*3650G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 3650 chr5 156763040
chr5:156763077 A
A
G
G
15 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(12): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
22 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(19): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*3687A>G
c.*3687A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 3687 chr5 156763077
chr5:156763161 G
G
GA
GA
35 a0001c0001t0006
a0001c0001t0009
a0001c0001t0012
others(32): Show 
a0001c0001t0006
a0001c0001t0009
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0016
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0025
a0001c0001t0026
a0001c0001t0029
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0010
a0001c0002t0011
a0001c0002t0013
a0001c0002t0019
a0001c0002t0022
a0001c0002t0024
a0001c0002t0028
a0001c0002t0044
a0001c0002t0050
a0001c0002t0052
a0001c0002t0057
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
57 HG00639.hp2
HG01070.hp1
HG01071.hp1
others(54): Show 
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02055.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*3772dupA
c.*3772dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 3773 INFO_REALIGN_3_PRIME chr5 156763161
chr5:156763288 C
C
T
T
2 a0001c0001t0049
a0001c0002t0060
a0001c0001t0049
a0001c0002t0060
2 HG02965.hp1
HG03130.hp2
HG02965.hp1
HG03130.hp2
3_prime_UTR_variant MODIFIER c.*3898C>T
c.*3898C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 3898 chr5 156763288
chr5:156763352 G
G
A
A
16 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(13): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0038
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
23 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(20): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02083.hp1
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*3962G>A
c.*3962G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 3962 chr5 156763352
chr5:156763482 A
A
G
G
18 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(15): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0025
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
25 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(22): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*4092A>G
c.*4092A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4092 chr5 156763482
chr5:156763525 T
T
C
C
1 a0001c0001t0025
a0001c0001t0025
1 NA20129.hp2
NA20129.hp2
3_prime_UTR_variant MODIFIER c.*4135T>C
c.*4135T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4135 chr5 156763525
chr5:156763556 T
T
C
C
12 a0001c0001t0020
a0001c0001t0021
a0001c0001t0045
others(9): Show 
a0001c0001t0020
a0001c0001t0021
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0002t0011
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0004c0007t0020
17 HG00639.hp2
HG01243.hp2
HG01256.hp1
others(14): Show 
HG00639.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02965.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*4166T>C
c.*4166T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4166 chr5 156763556
chr5:156763719 T
T
TA
TA
6 a0001c0001t0006
a0001c0001t0029
a0001c0001t0042
others(3): Show 
a0001c0001t0006
a0001c0001t0029
a0001c0001t0042
a0001c0001t0045
a0001c0002t0028
a0001c0002t0052
10 HG01891.hp1
HG02258.hp2
HG02717.hp1
others(7): Show 
HG01891.hp1
HG02258.hp2
HG02717.hp1
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03098.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp2
3_prime_UTR_variant MODIFIER c.*4341dupA
c.*4341dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4342 INFO_REALIGN_3_PRIME chr5 156763719
chr5:156763785 A
A
T
T
30 a0001c0001t0009
a0001c0001t0012
a0001c0001t0013
others(27): Show 
a0001c0001t0009
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0025
a0001c0001t0026
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0010
a0001c0002t0011
a0001c0002t0013
a0001c0002t0019
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0050
a0001c0002t0057
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
47 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(44): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02055.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*4395A>T
c.*4395A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4395 chr5 156763785
chr5:156763888 G
G
A
A
8 a0001c0001t0012
a0001c0001t0013
a0001c0001t0041
others(5): Show 
a0001c0001t0012
a0001c0001t0013
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0002t0013
a0001c0002t0019
a0001c0002t0057
12 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(9): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA18906.hp2
NA19240.hp1
3_prime_UTR_variant MODIFIER c.*4498G>A
c.*4498G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4498 chr5 156763888
chr5:156763892 C
C
T
T
1 a0001c0001t0025
a0001c0001t0025
1 NA20129.hp2
NA20129.hp2
3_prime_UTR_variant MODIFIER c.*4502C>T
c.*4502C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4502 chr5 156763892
chr5:156763938 T
T
G
G
1 a0001c0001t0037
a0001c0001t0037
1 NA19043.hp2
NA19043.hp2
3_prime_UTR_variant MODIFIER c.*4548T>G
c.*4548T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4548 chr5 156763938
chr5:156764028 C
C
A
A
2 a0001c0001t0022
a0001c0002t0022
a0001c0001t0022
a0001c0002t0022
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
3_prime_UTR_variant MODIFIER c.*4638C>A
c.*4638C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4638 chr5 156764028
chr5:156764203 T
T
C
C
26 a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
others(23): Show 
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0025
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0013
a0001c0002t0019
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0057
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
37 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(34): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*4813T>C
c.*4813T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4813 chr5 156764203
chr5:156764208 G
G
A
A
2 a0001c0001t0049
a0001c0002t0060
a0001c0001t0049
a0001c0002t0060
2 HG02965.hp1
HG03130.hp2
HG02965.hp1
HG03130.hp2
3_prime_UTR_variant MODIFIER c.*4818G>A
c.*4818G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4818 chr5 156764208
chr5:156764230 G
G
A
A
1 a0001c0001t0030
a0001c0001t0030
1 HG03239.hp2
HG03239.hp2
3_prime_UTR_variant MODIFIER c.*4840G>A
c.*4840G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4840 chr5 156764230
chr5:156764285 G
G
A
A
2 a0001c0001t0006
a0001c0002t0052
a0001c0001t0006
a0001c0002t0052
6 HG02258.hp2
HG02809.hp1
HG02970.hp1
others(3): Show 
HG02258.hp2
HG02809.hp1
HG02970.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
3_prime_UTR_variant MODIFIER c.*4895G>A
c.*4895G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 4895 chr5 156764285
chr5:156764504 C
C
T
T
15 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(12): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
22 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(19): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*5114C>T
c.*5114C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 5114 chr5 156764504
chr5:156764591 T
T
G
G
1 a0001c0001t0031
a0001c0001t0031
1 HG01978.hp2
HG01978.hp2
3_prime_UTR_variant MODIFIER c.*5201T>G
c.*5201T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 5201 chr5 156764591
chr5:156764616 G
G
A
A
1 a0001c0001t0032
a0001c0001t0032
1 HG02056.hp1
HG02056.hp1
3_prime_UTR_variant MODIFIER c.*5226G>A
c.*5226G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 5226 chr5 156764616
chr5:156764813 C
C
A
A
1 a0001c0001t0043
a0001c0001t0043
1 HG02630.hp1
HG02630.hp1
3_prime_UTR_variant MODIFIER c.*5423C>A
c.*5423C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 5423 chr5 156764813
chr5:156765053 A
A
G
G
1 a0001c0001t0048
a0001c0001t0048
1 HG00639.hp2
HG00639.hp2
3_prime_UTR_variant MODIFIER c.*5663A>G
c.*5663A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 5663 chr5 156765053
chr5:156765109 GA
GA
G
G
2 a0001c0001t0009
a0001c0002t0050
a0001c0001t0009
a0001c0002t0050
5 HG02055.hp1
HG02723.hp2
HG02895.hp1
others(2): Show 
HG02055.hp1
HG02723.hp2
HG02895.hp1
HG03139.hp2
NA19043.hp1
3_prime_UTR_variant MODIFIER c.*5723delA
c.*5723delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 5723 INFO_REALIGN_3_PRIME chr5 156765109
chr5:156765253 C
C
T
T
30 a0001c0001t0009
a0001c0001t0012
a0001c0001t0013
others(27): Show 
a0001c0001t0009
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0025
a0001c0001t0026
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0010
a0001c0002t0011
a0001c0002t0013
a0001c0002t0019
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0050
a0001c0002t0057
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
47 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(44): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02055.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*5863C>T
c.*5863C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 5863 chr5 156765253
chr5:156765267 C
C
A
A
3 a0001c0001t0007
a0001c0001t0038
a0001c0002t0054
a0001c0001t0007
a0001c0001t0038
a0001c0002t0054
7 HG02083.hp1
HG02155.hp2
NA18966.hp1
others(4): Show 
HG02083.hp1
HG02155.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp1
NA19011.hp2
NA19066.hp1
3_prime_UTR_variant MODIFIER c.*5877C>A
c.*5877C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 5877 chr5 156765267
chr5:156765380 T
T
A
A
17 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(14): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
24 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(21): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*5990T>A
c.*5990T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 5990 chr5 156765380
chr5:156765790 C
C
T
T
4 a0001c0001t0009
a0001c0001t0026
a0001c0002t0010
others(1): Show 
a0001c0001t0009
a0001c0001t0026
a0001c0002t0010
a0001c0002t0050
10 HG02055.hp1
HG02698.hp2
HG02723.hp2
others(7): Show 
HG02055.hp1
HG02698.hp2
HG02723.hp2
HG02895.hp1
HG03139.hp2
NA18953.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19043.hp1
3_prime_UTR_variant MODIFIER c.*6400C>T
c.*6400C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 6400 chr5 156765790
chr5:156765976 T
T
C
C
1 a0001c0001t0025
a0001c0001t0025
1 NA20129.hp2
NA20129.hp2
3_prime_UTR_variant MODIFIER c.*6586T>C
c.*6586T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 6586 chr5 156765976
chr5:156766034 T
T
TAAA
TAAA
13 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(10): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0045
a0001c0001t0046
a0001c0001t0048
a0001c0002t0011
a0001c0002t0022
a0001c0002t0024
a0001c0002t0058
a0001c0002t0059
a0004c0007t0020
20 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(17): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp2
HG03041.hp2
NA18959.hp1
NA19003.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*6658_*6660dupAAA
c.*6658_*6660dupAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 6661 INFO_REALIGN_3_PRIME chr5 156766034
chr5:156766034 TA
TA
T
T
14 a0001c0001t0012
a0001c0001t0013
a0001c0001t0025
others(11): Show 
a0001c0001t0012
a0001c0001t0013
a0001c0001t0025
a0001c0001t0026
a0001c0001t0034
a0001c0001t0035
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0002t0013
a0001c0002t0015
a0001c0002t0019
a0001c0002t0056
a0001c0002t0057
20 HG01169.hp2
HG01256.hp2
HG01981.hp1
others(17): Show 
HG01169.hp2
HG01256.hp2
HG01981.hp1
HG02155.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03704.hp1
NA18906.hp2
NA19003.hp2
NA19240.hp1
NA20129.hp2
3_prime_UTR_variant MODIFIER c.*6660delA
c.*6660delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 6660 INFO_REALIGN_3_PRIME chr5 156766034
chr5:156766055 G
G
A
A
17 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(14): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
24 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(21): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*6665G>A
c.*6665G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 6665 chr5 156766055
chr5:156766073 T
T
C
C
1 a0001c0002t0019
a0001c0002t0019
2 HG03041.hp1
NA19240.hp1
HG03041.hp1
NA19240.hp1
3_prime_UTR_variant MODIFIER c.*6683T>C
c.*6683T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 6683 chr5 156766073
chr5:156766107 G
G
A
A
64 a0001c0001t0001
a0001c0001t0003
a0001c0001t0006
others(61): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0001t0006
a0001c0001t0007
a0001c0001t0009
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0016
a0001c0001t0018
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0039
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0002
a0001c0002t0004
a0001c0002t0010
a0001c0002t0011
a0001c0002t0013
a0001c0002t0015
a0001c0002t0019
a0001c0002t0022
a0001c0002t0023
a0001c0002t0024
a0001c0002t0028
a0001c0002t0044
a0001c0002t0050
a0001c0002t0051
a0001c0002t0052
a0001c0002t0053
a0001c0002t0054
a0001c0002t0055
a0001c0002t0056
a0001c0002t0057
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0001c0004t0001
a0001c0004t0017
a0001c0006t0018
a0002c0003t0003
a0002c0003t0017
a0003c0005t0001
a0004c0007t0020
136 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(133): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*6717G>A
c.*6717G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 6717 chr5 156766107
chr5:156766265 G
G
A
A
1 a0001c0002t0060
a0001c0002t0060
1 HG02965.hp1
HG02965.hp1
3_prime_UTR_variant MODIFIER c.*6875G>A
c.*6875G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 6875 chr5 156766265
chr5:156766690 C
C
A
A
12 a0001c0001t0020
a0001c0001t0021
a0001c0001t0045
others(9): Show 
a0001c0001t0020
a0001c0001t0021
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0002t0011
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0004c0007t0020
17 HG00639.hp2
HG01243.hp2
HG01256.hp1
others(14): Show 
HG00639.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02965.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*7300C>A
c.*7300C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 7300 chr5 156766690
chr5:156766897 A
A
G
G
1 a0001c0002t0059
a0001c0002t0059
1 NA18959.hp1
NA18959.hp1
3_prime_UTR_variant MODIFIER c.*7507A>G
c.*7507A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 7507 chr5 156766897
chr5:156766986 A
A
G
G
1 a0001c0001t0016
a0001c0001t0016
2 HG01071.hp1
HG01243.hp1
HG01071.hp1
HG01243.hp1
3_prime_UTR_variant MODIFIER c.*7596A>G
c.*7596A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 7596 chr5 156766986
chr5:156767045 G
G
C
C
1 a0001c0001t0026
a0001c0001t0026
1 HG02698.hp2
HG02698.hp2
3_prime_UTR_variant MODIFIER c.*7655G>C
c.*7655G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 7655 chr5 156767045
chr5:156767204 C
C
T
T
17 a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
others(14): Show 
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0002t0011
a0001c0002t0022
a0001c0002t0024
a0001c0002t0044
a0001c0002t0058
a0001c0002t0059
a0001c0002t0060
a0004c0007t0020
24 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(21): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*7814C>T
c.*7814C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 7814 chr5 156767204
chr5:156767256 G
G
A
A
2 a0001c0001t0012
a0001c0001t0033
a0001c0001t0012
a0001c0001t0033
4 HG01981.hp1
HG02895.hp2
HG02897.hp1
others(1): Show 
HG01981.hp1
HG02895.hp2
HG02897.hp1
HG03225.hp2
3_prime_UTR_variant MODIFIER c.*7866G>A
c.*7866G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 7866 chr5 156767256
chr5:156767461 A
A
G
G
2 a0001c0001t0018
a0001c0006t0018
a0001c0001t0018
a0001c0006t0018
2 HG02257.hp1
NA19030.hp2
HG02257.hp1
NA19030.hp2
3_prime_UTR_variant MODIFIER c.*8071A>G
c.*8071A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 8071 chr5 156767461
chr5:156767484 G
G
GA
GA
20 a0001c0001t0009
a0001c0001t0014
a0001c0001t0021
others(17): Show 
a0001c0001t0009
a0001c0001t0014
a0001c0001t0021
a0001c0001t0022
a0001c0001t0026
a0001c0001t0029
a0001c0001t0032
a0001c0001t0039
a0001c0001t0045
a0001c0001t0048
a0001c0001t0049
a0001c0002t0010
a0001c0002t0022
a0001c0002t0023
a0001c0002t0024
a0001c0002t0050
a0001c0002t0055
a0001c0002t0060
a0001c0004t0017
a0002c0003t0017
31 HG00558.hp2
HG00639.hp2
HG01070.hp1
others(28): Show 
HG00558.hp2
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01891.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp1
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG04115.hp1
HG04115.hp2
NA18953.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp2
NA19043.hp1
NA20300.hp2
3_prime_UTR_variant MODIFIER c.*8114dupA
c.*8114dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 8115 INFO_REALIGN_3_PRIME chr5 156767484
chr5:156767484 G
G
GAA
GAA
5 a0001c0001t0020
a0001c0002t0011
a0001c0002t0058
others(2): Show 
a0001c0001t0020
a0001c0002t0011
a0001c0002t0058
a0001c0002t0059
a0004c0007t0020
8 HG01243.hp2
HG01516.hp2
HG02071.hp2
others(5): Show 
HG01243.hp2
HG01516.hp2
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
NA18959.hp1
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*8113_*8114dupAA
c.*8113_*8114dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 9/9 8115 INFO_REALIGN_3_PRIME chr5 156767484

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
chr5:156327291 C
C
G
G
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.-44+59C>G
c.-44+59C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156327291
chr5:156327646 T
T
C
C
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.-44+414T>C
c.-44+414T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156327646
chr5:156327761 G
G
A
A
2 a0001c0002t0010g0001
a0001c0002t0059g0002
a0001c0002t0010g0001
a0001c0002t0059g0002
2 NA18959.hp1
NA18990.hp2
NA18959.hp1
NA18990.hp2
intron_variant MODIFIER c.-44+529G>A
c.-44+529G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156327761
chr5:156328244 G
G
A
A
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.-44+1012G>A
c.-44+1012G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156328244
chr5:156328327 G
G
A
A
2 a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0039g0004
a0001c0001t0047g0003
2 HG04115.hp1
NA20129.hp1
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.-44+1095G>A
c.-44+1095G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156328327
chr5:156328452 T
T
A
A
1 a0001c0002t0010g0005
a0001c0002t0010g0005
1 NA18953.hp1
NA18953.hp1
intron_variant MODIFIER c.-43-1082T>A
c.-43-1082T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156328452
chr5:156328611 T
T
A
A
1 a0001c0002t0008g0006
a0001c0002t0008g0006
1 HG02040.hp1
HG02040.hp1
intron_variant MODIFIER c.-43-923T>A
c.-43-923T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156328611
chr5:156328614 TAGA
TAGA
T
T
2 a0001c0001t0001g0147
a0003c0005t0001g0148
a0001c0001t0001g0147
a0003c0005t0001g0148
2 HG02615.hp2
HG02735.hp1
HG02615.hp2
HG02735.hp1
intron_variant MODIFIER c.-43-917_-43-915del
others(3): Show 
c.-43-917_-43-915delAAG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chr5 156328614
chr5:156328653 T
T
C
C
3 a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
3 HG02630.hp2
HG02922.hp1
NA18522.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.-43-881T>C
c.-43-881T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156328653
chr5:156328673 G
G
C
C
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.-43-861G>C
c.-43-861G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156328673
chr5:156328742 G
G
A
A
119 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(116): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
119 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(116): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.-43-792G>A
c.-43-792G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156328742
chr5:156328758 G
G
A
A
13 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(10): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0002c0003t0017g0014
a0004c0007t0020g0012
13 HG01081.hp1
HG01516.hp2
HG01978.hp2
others(10): Show 
HG01081.hp1
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02622.hp1
HG02698.hp2
HG02897.hp2
HG03098.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA20805.hp1
intron_variant MODIFIER c.-43-776G>A
c.-43-776G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156328758
chr5:156328759 G
G
T
T
2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
2 HG02055.hp2
HG02717.hp2
HG02055.hp2
HG02717.hp2
intron_variant MODIFIER c.-43-775G>T
c.-43-775G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156328759
chr5:156328871 G
G
A
A
13 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0021g0027
others(10): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0021g0027
a0001c0001t0041g0028
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0004t0001g0009
a0001c0004t0017g0007
13 HG02615.hp1
HG02630.hp2
HG02717.hp1
others(10): Show 
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03471.hp2
NA18522.hp1
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.-43-663G>A
c.-43-663G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156328871
chr5:156329149 C
C
T
T
3 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0002t0008g0115
a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0002t0008g0115
3 HG01516.hp1
HG03130.hp2
HG03486.hp1
HG01516.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.-43-385C>T
c.-43-385C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156329149
chr5:156329184 A
A
G
G
129 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
129 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(126): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.-43-350A>G
c.-43-350A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156329184
chr5:156329289 A
A
G
G
72 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0068
others(69): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
72 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(69): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.-43-245A>G
c.-43-245A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156329289
chr5:156329378 A
A
ACC
ACC
6 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(3): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
6 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(3): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.-43-155_-43-154dup
others(2): Show 
c.-43-155_-43-154dupCC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chr5 156329378
chr5:156329404 G
G
A
A
72 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0068
others(69): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
72 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(69): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.-43-130G>A
c.-43-130G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 1/8 chr5 156329404
chr5:156329598 C
C
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.3+19C>T
c.3+19C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156329598
chr5:156329731 C
C
T
T
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.3+152C>T
c.3+152C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156329731
chr5:156329784 G
G
A
A
1 a0001c0002t0002g0061
a0001c0002t0002g0061
1 HG03486.hp2
HG03486.hp2
intron_variant MODIFIER c.3+205G>A
c.3+205G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156329784
chr5:156329827 C
C
T
T
5 a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
others(2): Show 
a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0002c0003t0003g0140
5 HG00639.hp2
HG02559.hp1
HG02622.hp2
others(2): Show 
HG00639.hp2
HG02559.hp1
HG02622.hp2
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.3+248C>T
c.3+248C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156329827
chr5:156329848 T
T
C
C
2 a0001c0002t0002g0062
a0001c0002t0024g0063
a0001c0002t0002g0062
a0001c0002t0024g0063
2 HG00558.hp1
NA19003.hp1
HG00558.hp1
NA19003.hp1
intron_variant MODIFIER c.3+269T>C
c.3+269T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156329848
chr5:156329864 A
A
G
G
11 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(8): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0147
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0011g0051
a0003c0005t0001g0148
11 HG01256.hp1
HG01258.hp2
HG02071.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02615.hp2
HG02723.hp1
HG02735.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.3+285A>G
c.3+285A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156329864
chr5:156329942 G
G
A
A
18 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0068
others(15): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0004t0001g0009
a0001c0004t0017g0007
18 HG01109.hp2
HG02615.hp1
HG02630.hp2
others(15): Show 
HG01109.hp2
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03471.hp2
NA18522.hp1
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.3+363G>A
c.3+363G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156329942
chr5:156330016 C
C
CA
CA
21 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0117
others(18): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0117
a0001c0001t0003g0119
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0050g0072
21 HG00558.hp1
HG01071.hp1
HG01516.hp1
others(18): Show 
HG00558.hp1
HG01071.hp1
HG01516.hp1
HG01981.hp2
HG02055.hp1
HG02258.hp2
HG02622.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA18953.hp1
NA18985.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp2
intron_variant MODIFIER c.3+461dupA
c.3+461dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156330016
chr5:156330016 C
C
CAA
CAA
14 a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0116
others(11): Show 
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0150
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0034g0118
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
14 HG00639.hp2
HG01070.hp2
HG01169.hp1
others(11): Show 
HG00639.hp2
HG01070.hp2
HG01169.hp1
HG01256.hp2
HG02055.hp2
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG03130.hp2
HG03225.hp1
HG03486.hp1
HG03704.hp2
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.3+460_3+461dupAA
c.3+460_3+461dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156330016
chr5:156330016 C
C
CAAA
CAAA
25 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0045
others(22): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0143
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0002t0011g0051
a0002c0003t0003g0140
a0002c0003t0017g0014
a0004c0007t0020g0012
25 HG01081.hp1
HG01243.hp1
HG01256.hp1
others(22): Show 
HG01081.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp1
HG02897.hp2
HG03139.hp2
HG03225.hp2
HG03490.hp1
HG03579.hp1
HG04115.hp2
NA18522.hp2
NA19002.hp2
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.3+459_3+461dupAAA
c.3+459_3+461dupAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156330016
chr5:156330016 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
C
C
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.3+451_3+461delAAAA
others(7): Show 
c.3+451_3+461delAAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156330016
chr5:156330090 C
C
T
T
1 a0001c0001t0001g0054
a0001c0001t0001g0054
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.3+511C>T
c.3+511C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156330090
chr5:156330249 A
A
G
G
3 a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
3 HG02630.hp2
HG02922.hp1
NA18522.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.3+670A>G
c.3+670A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156330249
chr5:156330310 G
G
A
A
2 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0003g0056
a0001c0001t0014g0055
2 HG01070.hp2
HG01169.hp1
HG01070.hp2
HG01169.hp1
intron_variant MODIFIER c.3+731G>A
c.3+731G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156330310
chr5:156330645 A
A
C
C
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.3+1066A>C
c.3+1066A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156330645
chr5:156330662 G
G
A
A
129 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
129 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(126): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+1083G>A
c.3+1083G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156330662
chr5:156330841 G
G
T
T
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.3+1262G>T
c.3+1262G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156330841
chr5:156330862 C
C
T
T
13 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(10): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0002c0003t0017g0014
a0004c0007t0020g0012
13 HG01081.hp1
HG01516.hp2
HG01978.hp2
others(10): Show 
HG01081.hp1
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02622.hp1
HG02698.hp2
HG02897.hp2
HG03098.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA20805.hp1
intron_variant MODIFIER c.3+1283C>T
c.3+1283C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156330862
chr5:156330936 A
A
T
T
129 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
129 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(126): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+1357A>T
c.3+1357A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156330936
chr5:156331127 C
C
A
A
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.3+1548C>A
c.3+1548C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156331127
chr5:156331272 A
A
G
G
12 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(9): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
12 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(9): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.3+1693A>G
c.3+1693A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156331272
chr5:156331306 C
C
T
T
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0036g0043
a0001c0001t0037g0042
8 HG02258.hp2
HG02809.hp1
HG02895.hp1
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02895.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.3+1727C>T
c.3+1727C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156331306
chr5:156331374 G
G
A
A
18 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(15): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0002c0003t0003g0140
18 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(15): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.3+1795G>A
c.3+1795G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156331374
chr5:156331715 C
C
CTATT
CTATT
40 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(37): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
40 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(37): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp2
NA19002.hp2
NA19030.hp1
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.3+2137_3+2140dupTA
others(2): Show 
c.3+2137_3+2140dupTATT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156331715
chr5:156332024 G
G
A
A
2 a0001c0001t0001g0147
a0003c0005t0001g0148
a0001c0001t0001g0147
a0003c0005t0001g0148
2 HG02615.hp2
HG02735.hp1
HG02615.hp2
HG02735.hp1
intron_variant MODIFIER c.3+2445G>A
c.3+2445G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156332024
chr5:156332030 T
T
C
C
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.3+2451T>C
c.3+2451T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156332030
chr5:156332058 G
G
T
T
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.3+2479G>T
c.3+2479G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156332058
chr5:156332260 A
A
G
G
74 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
others(71): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
74 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(71): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+2681A>G
c.3+2681A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156332260
chr5:156332377 G
G
C
C
17 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(14): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
17 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(14): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.3+2798G>C
c.3+2798G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156332377
chr5:156332453 G
G
A
A
128 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
128 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(125): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+2874G>A
c.3+2874G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156332453
chr5:156332636 G
G
A
A
72 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
others(69): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
72 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(69): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+3057G>A
c.3+3057G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156332636
chr5:156332777 G
G
C
C
2 a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0039g0004
a0001c0001t0047g0003
2 HG04115.hp1
NA20129.hp1
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.3+3198G>C
c.3+3198G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156332777
chr5:156332836 C
C
T
T
2 a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0039g0004
a0001c0001t0047g0003
2 HG04115.hp1
NA20129.hp1
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.3+3257C>T
c.3+3257C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156332836
chr5:156333071 A
A
T
T
73 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
others(70): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
73 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(70): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+3492A>T
c.3+3492A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156333071
chr5:156333113 T
T
G
G
1 a0001c0002t0054g0073
a0001c0002t0054g0073
1 NA18990.hp1
NA18990.hp1
intron_variant MODIFIER c.3+3534T>G
c.3+3534T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156333113
chr5:156333124 T
T
C
C
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.3+3545T>C
c.3+3545T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156333124
chr5:156333231 C
C
T
T
12 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(9): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0002c0003t0017g0014
a0004c0007t0020g0012
12 HG01081.hp1
HG01516.hp2
HG01978.hp2
others(9): Show 
HG01081.hp1
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02622.hp1
HG02698.hp2
HG02897.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA20805.hp1
intron_variant MODIFIER c.3+3652C>T
c.3+3652C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156333231
chr5:156333278 C
C
T
T
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.3+3699C>T
c.3+3699C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156333278
chr5:156333382 C
C
T
T
10 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(7): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0147
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0003c0005t0001g0148
10 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(7): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02615.hp2
HG02723.hp1
HG02735.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.3+3803C>T
c.3+3803C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156333382
chr5:156333440 G
G
A
A
1 a0001c0002t0002g0075
a0001c0002t0002g0075
1 NA19009.hp2
NA19009.hp2
intron_variant MODIFIER c.3+3861G>A
c.3+3861G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156333440
chr5:156333517 A
A
G
G
1 a0001c0002t0004g0114
a0001c0002t0004g0114
1 HG01261.hp1
HG01261.hp1
intron_variant MODIFIER c.3+3938A>G
c.3+3938A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156333517
chr5:156333639 T
T
C
C
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.3+4060T>C
c.3+4060T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156333639
chr5:156333717 C
C
T
T
2 a0001c0002t0050g0072
a0001c0002t0060g0074
a0001c0002t0050g0072
a0001c0002t0060g0074
2 HG02055.hp1
HG02965.hp1
HG02055.hp1
HG02965.hp1
intron_variant MODIFIER c.3+4138C>T
c.3+4138C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156333717
chr5:156333783 A
A
AT
AT
7 a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0136
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0136
a0001c0001t0007g0134
a0001c0001t0014g0132
a0001c0001t0030g0135
a0001c0001t0040g0131
7 HG01070.hp1
HG01109.hp1
HG01978.hp1
others(4): Show 
HG01070.hp1
HG01109.hp1
HG01978.hp1
HG02698.hp1
HG02717.hp2
HG03239.hp2
NA18985.hp2
intron_variant MODIFIER c.3+4241dupT
c.3+4241dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 A
A
ATT
ATT
10 a0001c0001t0001g0116
a0001c0001t0003g0119
a0001c0001t0005g0047
others(7): Show 
a0001c0001t0001g0116
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0007g0138
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0047g0003
a0003c0005t0001g0148
10 HG01071.hp1
HG01256.hp1
HG01258.hp2
others(7): Show 
HG01071.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp1
HG02055.hp2
HG02735.hp1
HG02735.hp2
NA19066.hp1
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.3+4240_3+4241dupTT
c.3+4240_3+4241dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 A
A
ATTTT
ATTTT
6 a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0147
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0147
a0001c0001t0006g0037
a0001c0001t0009g0049
a0001c0001t0014g0048
6 HG02258.hp2
HG02615.hp2
HG02723.hp1
others(3): Show 
HG02258.hp2
HG02615.hp2
HG02723.hp1
HG03139.hp1
HG03139.hp2
NA18522.hp2
intron_variant MODIFIER c.3+4238_3+4241dupTT
others(2): Show 
c.3+4238_3+4241dupTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 A
A
ATTTTT
ATTTTT
14 a0001c0001t0001g0052
a0001c0001t0003g0018
a0001c0001t0006g0038
others(11): Show 
a0001c0001t0001g0052
a0001c0001t0003g0018
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0048g0053
a0002c0003t0003g0140
14 HG00639.hp2
HG02257.hp2
HG02559.hp1
others(11): Show 
HG00639.hp2
HG02257.hp2
HG02559.hp1
HG02622.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG03471.hp1
HG03490.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.3+4237_3+4241dupTT
others(3): Show 
c.3+4237_3+4241dupTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 A
A
ATTTTTTT
ATTTTTTT
5 a0001c0001t0001g0019
a0001c0001t0001g0054
a0001c0001t0029g0024
others(2): Show 
a0001c0001t0001g0019
a0001c0001t0001g0054
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
5 HG01081.hp1
HG01978.hp2
HG02056.hp1
others(2): Show 
HG01081.hp1
HG01978.hp2
HG02056.hp1
HG02622.hp2
HG03098.hp2
intron_variant MODIFIER c.3+4235_3+4241dupTT
others(5): Show 
c.3+4235_3+4241dupTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 A
A
ATTTTTTT
others(4): Show 
ATTTTTTTTTTT
1 a0001c0001t0003g0022
a0001c0001t0003g0022
1 HG02897.hp2
HG02897.hp2
intron_variant MODIFIER c.3+4231_3+4241dupTT
others(9): Show 
c.3+4231_3+4241dupTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 A
A
ATTTTTTT
others(5): Show 
ATTTTTTTTTTTT
2 a0001c0001t0009g0142
a0001c0001t0033g0141
a0001c0001t0009g0142
a0001c0001t0033g0141
2 HG03225.hp2
NA19043.hp1
HG03225.hp2
NA19043.hp1
intron_variant MODIFIER c.3+4230_3+4241dupTT
others(10): Show 
c.3+4230_3+4241dupTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 A
A
ATTTTTTT
others(6): Show 
ATTTTTTTTTTTTT
2 a0001c0001t0001g0143
a0001c0006t0018g0145
a0001c0001t0001g0143
a0001c0006t0018g0145
2 HG02257.hp1
HG03579.hp1
HG02257.hp1
HG03579.hp1
intron_variant MODIFIER c.3+4229_3+4241dupTT
others(11): Show 
c.3+4229_3+4241dupTTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 A
A
ATTTTTTT
others(7): Show 
ATTTTTTTTTTTTTT
2 a0001c0001t0001g0146
a0001c0001t0016g0144
a0001c0001t0001g0146
a0001c0001t0016g0144
2 HG01243.hp1
HG02145.hp1
HG01243.hp1
HG02145.hp1
intron_variant MODIFIER c.3+4228_3+4241dupTT
others(12): Show 
c.3+4228_3+4241dupTTTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 ATTTT
ATTTT
A
A
6 a0001c0001t0001g0008
a0001c0001t0021g0027
a0001c0001t0043g0139
others(3): Show 
a0001c0001t0001g0008
a0001c0001t0021g0027
a0001c0001t0043g0139
a0001c0002t0004g0113
a0001c0002t0023g0112
a0001c0004t0017g0007
6 HG01071.hp2
HG02630.hp1
HG02630.hp2
others(3): Show 
HG01071.hp2
HG02630.hp1
HG02630.hp2
HG02965.hp2
HG03098.hp1
NA18522.hp1
intron_variant MODIFIER c.3+4238_3+4241delTT
others(2): Show 
c.3+4238_3+4241delTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 ATTTTTT
ATTTTTT
A
A
16 a0001c0001t0001g0068
a0001c0002t0002g0075
a0001c0002t0002g0102
others(13): Show 
a0001c0001t0001g0068
a0001c0002t0002g0075
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0108
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0052g0111
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0061g0103
16 HG01109.hp2
HG01891.hp2
HG01981.hp2
others(13): Show 
HG01109.hp2
HG01891.hp2
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG03453.hp2
NA18906.hp2
NA18959.hp1
NA18959.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp2
NA19011.hp1
NA19090.hp1
NA19090.hp2
intron_variant MODIFIER c.3+4236_3+4241delTT
others(4): Show 
c.3+4236_3+4241delTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 ATTTTTTT
ATTTTTTT
A
A
38 a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0010
others(35): Show 
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
38 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(35): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02723.hp2
HG02809.hp2
HG02970.hp1
HG03239.hp1
HG03453.hp1
HG03490.hp2
HG03704.hp1
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+4235_3+4241delTT
others(5): Show 
c.3+4235_3+4241delTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 ATTTTTTT
others(1): Show 
ATTTTTTTT
A
A
5 a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0008g0115
others(2): Show 
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0008g0115
a0001c0002t0050g0072
a0001c0002t0060g0074
5 HG01516.hp1
HG02055.hp1
HG02922.hp2
others(2): Show 
HG01516.hp1
HG02055.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp2
intron_variant MODIFIER c.3+4234_3+4241delTT
others(6): Show 
c.3+4234_3+4241delTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 ATTTTTTT
others(4): Show 
ATTTTTTTTTTT
A
A
6 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(3): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
6 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(3): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.3+4231_3+4241delTT
others(9): Show 
c.3+4231_3+4241delTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 ATTTTTTT
others(6): Show 
ATTTTTTTTTTTTT
A
A
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.3+4229_3+4241delTT
others(11): Show 
c.3+4229_3+4241delTTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333783 ATTTTTTT
others(11): Show 
ATTTTTTTTTTTTTTTTTT
A
A
1 a0001c0001t0001g0023
a0001c0001t0001g0023
1 HG03704.hp2
HG03704.hp2
intron_variant MODIFIER c.3+4224_3+4241delTT
others(16): Show 
c.3+4224_3+4241delTTTTTTTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156333783
chr5:156333887 G
G
A
A
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.3+4308G>A
c.3+4308G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156333887
chr5:156334142 T
T
A
A
1 a0001c0001t0040g0131
a0001c0001t0040g0131
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.3+4563T>A
c.3+4563T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156334142
chr5:156334203 G
G
A
A
5 a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
others(2): Show 
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0022g0064
a0001c0001t0042g0065
5 HG01109.hp2
HG02723.hp2
HG02922.hp2
others(2): Show 
HG01109.hp2
HG02723.hp2
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.3+4624G>A
c.3+4624G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156334203
chr5:156334217 G
G
A
A
1 a0001c0002t0008g0076
a0001c0002t0008g0076
1 NA19010.hp1
NA19010.hp1
intron_variant MODIFIER c.3+4638G>A
c.3+4638G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156334217
chr5:156334232 C
C
T
T
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0036g0043
a0001c0001t0037g0042
8 HG02258.hp2
HG02809.hp1
HG02895.hp1
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02895.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.3+4653C>T
c.3+4653C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156334232
chr5:156334367 G
G
A
A
11 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(8): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0147
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0011g0051
a0003c0005t0001g0148
11 HG01256.hp1
HG01258.hp2
HG02071.hp2
others(8): Show 
HG01256.hp1
HG01258.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02615.hp2
HG02723.hp1
HG02735.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.3+4788G>A
c.3+4788G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156334367
chr5:156334383 T
T
C
C
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.3+4804T>C
c.3+4804T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156334383
chr5:156334459 A
A
G
G
1 a0001c0002t0004g0114
a0001c0002t0004g0114
1 HG01261.hp1
HG01261.hp1
intron_variant MODIFIER c.3+4880A>G
c.3+4880A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156334459
chr5:156334609 C
C
CT
CT
22 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(19): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0005g0047
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0002t0011g0051
a0002c0003t0017g0014
a0004c0007t0020g0012
22 HG01081.hp1
HG01169.hp1
HG01256.hp1
others(19): Show 
HG01081.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02257.hp2
HG02622.hp1
HG02723.hp1
HG03098.hp2
HG03139.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp2
NA19002.hp2
NA19066.hp1
NA20805.hp1
intron_variant MODIFIER c.3+5050dupT
c.3+5050dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156334609
chr5:156334609 C
C
CTT
CTT
11 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(8): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
11 HG01070.hp2
HG01243.hp1
HG02145.hp1
others(8): Show 
HG01070.hp2
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG03225.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.3+5049_3+5050dupTT
c.3+5049_3+5050dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156334609
chr5:156334609 C
C
CTTT
CTTT
13 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0147
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0003c0005t0001g0148
13 HG02055.hp2
HG02258.hp2
HG02615.hp2
others(10): Show 
HG02055.hp2
HG02258.hp2
HG02615.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.3+5048_3+5050dupTT
others(1): Show 
c.3+5048_3+5050dupTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156334609
chr5:156334609 CT
CT
C
C
65 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
others(62): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0014g0132
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
65 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(62): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01109.hp2
HG01243.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+5050delT
c.3+5050delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156334609
chr5:156334609 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
C
C
1 a0001c0001t0001g0117
a0001c0001t0001g0117
1 HG02717.hp2
HG02717.hp2
intron_variant MODIFIER c.3+5041_3+5050delTT
others(8): Show 
c.3+5041_3+5050delTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156334609
chr5:156334664 G
G
A
A
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.3+5085G>A
c.3+5085G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156334664
chr5:156334940 C
C
T
T
73 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
others(70): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
73 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(70): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+5361C>T
c.3+5361C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156334940
chr5:156335205 C
C
G
G
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.3+5626C>G
c.3+5626C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156335205
chr5:156335347 A
A
G
G
1 a0001c0002t0002g0075
a0001c0002t0002g0075
1 NA19009.hp2
NA19009.hp2
intron_variant MODIFIER c.3+5768A>G
c.3+5768A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156335347
chr5:156335418 A
A
G
G
2 a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0129
a0001c0001t0005g0130
2 NA19009.hp1
NA19057.hp2
NA19009.hp1
NA19057.hp2
intron_variant MODIFIER c.3+5839A>G
c.3+5839A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156335418
chr5:156335514 A
A
G
G
1 a0001c0001t0003g0136
a0001c0001t0003g0136
1 HG02698.hp1
HG02698.hp1
intron_variant MODIFIER c.3+5935A>G
c.3+5935A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156335514
chr5:156335618 G
G
A
A
128 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
128 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(125): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+6039G>A
c.3+6039G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156335618
chr5:156335675 C
C
A
A
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.3+6096C>A
c.3+6096C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156335675
chr5:156335746 T
T
C
C
74 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
others(71): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
74 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(71): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+6167T>C
c.3+6167T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156335746
chr5:156335838 A
A
G
G
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.3+6259A>G
c.3+6259A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156335838
chr5:156335910 C
C
T
T
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.3+6331C>T
c.3+6331C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156335910
chr5:156335941 C
C
T
T
17 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(14): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
17 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(14): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.3+6362C>T
c.3+6362C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156335941
chr5:156336030 G
G
A
A
74 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
others(71): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
74 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(71): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+6451G>A
c.3+6451G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156336030
chr5:156336156 A
A
G
G
37 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0049g0149
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
37 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(34): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp2
NA19002.hp2
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.3+6577A>G
c.3+6577A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156336156
chr5:156336334 A
A
G
G
74 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
others(71): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
74 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(71): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+6755A>G
c.3+6755A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156336334
chr5:156336557 A
A
G
G
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.3+6978A>G
c.3+6978A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156336557
chr5:156336605 A
A
G
G
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.3+7026A>G
c.3+7026A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156336605
chr5:156336643 G
G
A
A
129 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
129 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(126): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.3+7064G>A
c.3+7064G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156336643
chr5:156336645 G
G
A
A
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.3+7066G>A
c.3+7066G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156336645
chr5:156336759 G
G
T
T
35 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(32): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
35 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(32): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp2
NA19002.hp2
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.3+7180G>T
c.3+7180G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156336759
chr5:156336832 C
C
T
T
2 a0001c0002t0005g0097
a0001c0002t0052g0111
a0001c0002t0005g0097
a0001c0002t0052g0111
2 HG03453.hp2
NA20805.hp2
HG03453.hp2
NA20805.hp2
intron_variant MODIFIER c.3+7253C>T
c.3+7253C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156336832
chr5:156337005 A
A
T
T
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.3+7426A>T
c.3+7426A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156337005
chr5:156337172 A
A
G
G
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.4-7317A>G
c.4-7317A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156337172
chr5:156337240 G
G
A
A
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.4-7249G>A
c.4-7249G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156337240
chr5:156337372 T
T
G
G
17 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
others(14): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0004t0001g0009
a0001c0004t0017g0007
17 HG01109.hp2
HG02615.hp1
HG02630.hp2
others(14): Show 
HG01109.hp2
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03471.hp2
NA18522.hp1
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.4-7117T>G
c.4-7117T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156337372
chr5:156337388 T
T
C
C
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.4-7101T>C
c.4-7101T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156337388
chr5:156337459 A
A
T
T
1 a0001c0002t0056g0096
a0001c0002t0056g0096
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.4-7030A>T
c.4-7030A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156337459
chr5:156337571 G
G
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0036g0043
a0001c0001t0037g0042
8 HG02258.hp2
HG02809.hp1
HG02895.hp1
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02895.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.4-6918G>A
c.4-6918G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156337571
chr5:156337656 G
G
A
A
29 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(26): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0038g0044
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
29 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(26): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02083.hp1
HG02129.hp2
HG02257.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp2
NA19002.hp2
NA20805.hp1
intron_variant MODIFIER c.4-6833G>A
c.4-6833G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156337656
chr5:156337885 C
C
A
A
30 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(27): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0002t0011g0051
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
30 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(27): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02257.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp2
NA19002.hp2
NA20805.hp1
intron_variant MODIFIER c.4-6604C>A
c.4-6604C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156337885
chr5:156337986 T
T
G
G
3 a0001c0001t0001g0150
a0001c0001t0043g0139
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0043g0139
a0001c0001t0049g0149
3 HG02630.hp1
HG03130.hp2
HG03486.hp1
HG02630.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.4-6503T>G
c.4-6503T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156337986
chr5:156338042 C
C
T
T
1 a0001c0002t0002g0095
a0001c0002t0002g0095
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.4-6447C>T
c.4-6447C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338042
chr5:156338048 T
T
G
G
129 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
129 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(126): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-6441T>G
c.4-6441T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338048
chr5:156338159 C
C
T
T
3 a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0023g0112
a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0023g0112
3 HG01071.hp2
HG03098.hp1
HG03486.hp2
HG01071.hp2
HG03098.hp1
HG03486.hp2
intron_variant MODIFIER c.4-6330C>T
c.4-6330C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338159
chr5:156338166 T
T
TCTTG
TCTTG
40 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(37): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
40 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(37): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp2
NA19002.hp2
NA19030.hp1
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.4-6323_4-6322insCT
others(2): Show 
c.4-6323_4-6322insCTTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338166
chr5:156338166 T
T
TTTTG
TTTTG
89 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0054
others(86): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
89 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(86): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG04115.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-6311_4-6308dupGT
others(2): Show 
c.4-6311_4-6308dupGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156338166
chr5:156338236 A
A
G
G
2 a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0005g0047
a0001c0001t0021g0046
2 HG01256.hp1
HG01258.hp2
HG01256.hp1
HG01258.hp2
intron_variant MODIFIER c.4-6253A>G
c.4-6253A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338236
chr5:156338583 G
G
A
A
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.4-5906G>A
c.4-5906G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338583
chr5:156338588 T
T
C
C
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.4-5901T>C
c.4-5901T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338588
chr5:156338632 A
A
G
G
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.4-5857A>G
c.4-5857A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338632
chr5:156338659 T
T
C
C
2 a0001c0002t0002g0077
a0001c0002t0008g0101
a0001c0002t0002g0077
a0001c0002t0008g0101
2 NA18959.hp2
NA18966.hp2
NA18959.hp2
NA18966.hp2
intron_variant MODIFIER c.4-5830T>C
c.4-5830T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338659
chr5:156338688 G
G
A
A
9 a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0102
others(6): Show 
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0010g0005
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0054g0073
9 HG01981.hp2
HG02040.hp2
HG02155.hp1
others(6): Show 
HG01981.hp2
HG02040.hp2
HG02155.hp1
NA18953.hp1
NA18964.hp1
NA18990.hp1
NA19003.hp2
NA19090.hp2
NA20300.hp1
intron_variant MODIFIER c.4-5801G>A
c.4-5801G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338688
chr5:156338694 A
A
G
G
72 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
others(69): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
72 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(69): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-5795A>G
c.4-5795A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338694
chr5:156338715 G
G
T
T
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.4-5774G>T
c.4-5774G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338715
chr5:156338777 G
G
A
A
1 a0001c0002t0010g0005
a0001c0002t0010g0005
1 NA18953.hp1
NA18953.hp1
intron_variant MODIFIER c.4-5712G>A
c.4-5712G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338777
chr5:156338804 G
G
T
T
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.4-5685G>T
c.4-5685G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338804
chr5:156338946 A
A
G
G
40 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(37): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
40 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(37): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp2
NA19002.hp2
NA19030.hp1
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.4-5543A>G
c.4-5543A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338946
chr5:156338960 C
C
CTG
CTG
128 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
128 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(125): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-5528_4-5527insGT
c.4-5528_4-5527insGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156338960
chr5:156338973 A
A
C
C
6 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(3): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
6 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(3): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.4-5516A>C
c.4-5516A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338973
chr5:156338974 T
T
C
C
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.4-5515T>C
c.4-5515T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156338974
chr5:156339054 C
C
T
T
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.4-5435C>T
c.4-5435C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156339054
chr5:156339146 GTTATA
GTTATA
G
G
10 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(7): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0147
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0003c0005t0001g0148
10 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(7): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02615.hp2
HG02723.hp1
HG02735.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.4-5336_4-5332delTA
others(3): Show 
c.4-5336_4-5332delTATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156339146
chr5:156339312 G
G
A
A
37 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
37 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(34): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp2
NA19002.hp2
NA19030.hp1
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.4-5177G>A
c.4-5177G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156339312
chr5:156339330 T
T
C
C
128 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
128 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(125): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-5159T>C
c.4-5159T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156339330
chr5:156339411 A
A
G
G
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.4-5078A>G
c.4-5078A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156339411
chr5:156339413 A
A
T
T
1 a0001c0001t0001g0054
a0001c0001t0001g0054
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.4-5076A>T
c.4-5076A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156339413
chr5:156339450 A
A
G
G
1 a0001c0001t0031g0021
a0001c0001t0031g0021
1 HG01978.hp2
HG01978.hp2
intron_variant MODIFIER c.4-5039A>G
c.4-5039A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156339450
chr5:156339522 C
C
T
T
6 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(3): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
6 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(3): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.4-4967C>T
c.4-4967C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156339522
chr5:156339593 A
A
G
G
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.4-4896A>G
c.4-4896A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156339593
chr5:156339643 TTA
TTA
T
T
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.4-4844_4-4843delAT
c.4-4844_4-4843delAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156339643
chr5:156339780 A
A
G
G
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.4-4709A>G
c.4-4709A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156339780
chr5:156339969 G
G
A
A
122 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(119): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
122 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(119): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-4520G>A
c.4-4520G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156339969
chr5:156340079 A
A
G
G
4 a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
others(1): Show 
a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
4 HG00639.hp2
HG02622.hp2
HG04115.hp1
others(1): Show 
HG00639.hp2
HG02622.hp2
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.4-4410A>G
c.4-4410A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156340079
chr5:156340091 C
C
T
T
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.4-4398C>T
c.4-4398C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156340091
chr5:156340291 C
C
G
G
2 a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0039g0004
a0001c0001t0047g0003
2 HG04115.hp1
NA20129.hp1
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.4-4198C>G
c.4-4198C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156340291
chr5:156340356 C
C
T
T
122 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(119): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
122 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(119): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-4133C>T
c.4-4133C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156340356
chr5:156340753 C
C
T
T
2 a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0129
a0001c0001t0005g0130
2 NA19009.hp1
NA19057.hp2
NA19009.hp1
NA19057.hp2
intron_variant MODIFIER c.4-3736C>T
c.4-3736C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156340753
chr5:156340782 C
C
T
T
1 a0001c0001t0003g0136
a0001c0001t0003g0136
1 HG02698.hp1
HG02698.hp1
intron_variant MODIFIER c.4-3707C>T
c.4-3707C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156340782
chr5:156340860 G
G
T
T
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.4-3629G>T
c.4-3629G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156340860
chr5:156340911 G
G
A
A
74 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
others(71): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
74 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(71): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-3578G>A
c.4-3578G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156340911
chr5:156340912 A
A
T
T
74 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
others(71): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
74 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(71): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-3577A>T
c.4-3577A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156340912
chr5:156340981 A
A
G
G
129 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
129 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(126): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-3508A>G
c.4-3508A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156340981
chr5:156341106 A
A
G
G
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.4-3383A>G
c.4-3383A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156341106
chr5:156341595 G
G
A
A
12 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(9): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
12 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(9): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.4-2894G>A
c.4-2894G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156341595
chr5:156342027 T
T
C
C
2 a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0129
a0001c0001t0005g0130
2 NA19009.hp1
NA19057.hp2
NA19009.hp1
NA19057.hp2
intron_variant MODIFIER c.4-2462T>C
c.4-2462T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156342027
chr5:156342155 C
C
A
A
6 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(3): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
6 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(3): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.4-2334C>A
c.4-2334C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156342155
chr5:156342185 A
A
G
G
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.4-2304A>G
c.4-2304A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156342185
chr5:156342353 A
A
G
G
13 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(10): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0002c0003t0017g0014
a0004c0007t0020g0012
13 HG01081.hp1
HG01516.hp2
HG01978.hp2
others(10): Show 
HG01081.hp1
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02622.hp1
HG02698.hp2
HG02897.hp2
HG03098.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA20805.hp1
intron_variant MODIFIER c.4-2136A>G
c.4-2136A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156342353
chr5:156342445 T
T
G
G
13 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(10): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0002c0003t0017g0014
a0004c0007t0020g0012
13 HG01081.hp1
HG01516.hp2
HG01978.hp2
others(10): Show 
HG01081.hp1
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02622.hp1
HG02698.hp2
HG02897.hp2
HG03098.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA20805.hp1
intron_variant MODIFIER c.4-2044T>G
c.4-2044T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156342445
chr5:156342463 G
G
A
A
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.4-2026G>A
c.4-2026G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156342463
chr5:156342521 T
T
C
C
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.4-1968T>C
c.4-1968T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156342521
chr5:156342684 A
A
T
T
13 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(10): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0002c0003t0017g0014
a0004c0007t0020g0012
13 HG01081.hp1
HG01516.hp2
HG01978.hp2
others(10): Show 
HG01081.hp1
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02622.hp1
HG02698.hp2
HG02897.hp2
HG03098.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA20805.hp1
intron_variant MODIFIER c.4-1805A>T
c.4-1805A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156342684
chr5:156342807 C
C
T
T
1 a0001c0001t0003g0136
a0001c0001t0003g0136
1 HG02698.hp1
HG02698.hp1
intron_variant MODIFIER c.4-1682C>T
c.4-1682C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156342807
chr5:156342983 G
G
A
A
35 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(32): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
35 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(32): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp2
NA19002.hp2
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.4-1506G>A
c.4-1506G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156342983
chr5:156343062 C
C
T
T
1 a0001c0001t0040g0131
a0001c0001t0040g0131
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.4-1427C>T
c.4-1427C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156343062
chr5:156343112 C
C
CA
CA
91 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0058
others(88): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
91 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(88): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-1366dupA
c.4-1366dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156343112
chr5:156343112 CA
CA
C
C
10 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(7): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0147
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0003c0005t0001g0148
10 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(7): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02615.hp2
HG02723.hp1
HG02735.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.4-1366delA
c.4-1366delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156343112
chr5:156343143 G
G
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.4-1346G>T
c.4-1346G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156343143
chr5:156343407 G
G
A
A
5 a0001c0001t0001g0058
a0001c0001t0012g0059
a0001c0001t0012g0060
others(2): Show 
a0001c0001t0001g0058
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0029g0024
5 HG02559.hp2
HG02895.hp2
HG02897.hp1
others(2): Show 
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.4-1082G>A
c.4-1082G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156343407
chr5:156343743 T
T
G
G
40 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(37): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0011g0051
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
40 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(37): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA19002.hp2
NA19030.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.4-746T>G
c.4-746T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156343743
chr5:156343908 C
C
T
T
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0004c0007t0020g0012
118 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(115): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-581C>T
c.4-581C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156343908
chr5:156343930 G
G
C
C
2 a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0005g0047
a0001c0001t0021g0046
2 HG01256.hp1
HG01258.hp2
HG01256.hp1
HG01258.hp2
intron_variant MODIFIER c.4-559G>C
c.4-559G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156343930
chr5:156343930 G
G
T
T
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0038g0044
a0001c0001t0045g0137
a0001c0002t0011g0051
8 HG01891.hp1
HG02071.hp2
HG02083.hp1
others(5): Show 
HG01891.hp1
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.4-559G>T
c.4-559G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156343930
chr5:156344012 C
C
T
T
27 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(24): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
27 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(24): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02056.hp1
HG02129.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA20805.hp1
intron_variant MODIFIER c.4-477C>T
c.4-477C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156344012
chr5:156344042 T
T
G
G
20 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(17): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0002c0003t0003g0140
20 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(17): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.4-447T>G
c.4-447T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156344042
chr5:156344051 A
A
AC
AC
20 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(17): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0002c0003t0003g0140
20 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(17): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.4-431dupC
c.4-431dupC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156344051
chr5:156344106 G
G
A
A
10 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
others(7): Show 
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0053g0085
10 HG01243.hp2
HG02258.hp1
HG02717.hp1
others(7): Show 
HG01243.hp2
HG02258.hp1
HG02717.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
HG03471.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.4-383G>A
c.4-383G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156344106
chr5:156344346 A
A
G
G
105 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(102): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
105 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(102): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-143A>G
c.4-143A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 chr5 156344346
chr5:156344411 A
A
AT
AT
62 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(59): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.4-69dupT
c.4-69dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chr5 156344411
chr5:156344763 A
A
G
G
125 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
125 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(122): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+86A>G
c.192+86A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156344763
chr5:156344869 G
G
A
A
148 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(145): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
148 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(145): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+192G>A
c.192+192G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156344869
chr5:156344990 G
G
T
T
1 a0001c0002t0002g0095
a0001c0002t0002g0095
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.192+313G>T
c.192+313G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156344990
chr5:156345107 TA
TA
T
T
8 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
8 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(5): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.192+435delA
c.192+435delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156345107
chr5:156345635 G
G
C
C
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+958G>C
c.192+958G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156345635
chr5:156345673 A
A
G
G
20 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(17): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0002c0003t0003g0140
20 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(17): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+996A>G
c.192+996A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156345673
chr5:156345691 A
A
T
T
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.192+1014A>T
c.192+1014A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156345691
chr5:156345886 C
C
T
T
27 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
others(24): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
27 HG00639.hp2
HG01256.hp1
HG01258.hp2
others(24): Show 
HG00639.hp2
HG01256.hp1
HG01258.hp2
HG02055.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02622.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA19002.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+1209C>T
c.192+1209C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156345886
chr5:156346090 A
A
G
G
1 a0001c0002t0010g0094
a0001c0002t0010g0094
1 NA19010.hp2
NA19010.hp2
intron_variant MODIFIER c.192+1413A>G
c.192+1413A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156346090
chr5:156346211 TA
TA
T
T
19 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(16): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
19 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(16): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+1539delA
c.192+1539delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156346211
chr5:156346340 A
A
G
G
62 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(59): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+1663A>G
c.192+1663A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156346340
chr5:156346343 C
C
G
G
62 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(59): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+1666C>G
c.192+1666C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156346343
chr5:156346451 A
A
G
G
2 a0001c0002t0002g0093
a0001c0002t0015g0081
a0001c0002t0002g0093
a0001c0002t0015g0081
2 NA18953.hp2
NA19003.hp2
NA18953.hp2
NA19003.hp2
intron_variant MODIFIER c.192+1774A>G
c.192+1774A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156346451
chr5:156346778 C
C
CT
CT
62 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(59): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+2104dupT
c.192+2104dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156346778
chr5:156346782 A
A
T
T
62 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(59): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+2105A>T
c.192+2105A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156346782
chr5:156346890 C
C
T
T
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.192+2213C>T
c.192+2213C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156346890
chr5:156346891 G
G
A
A
2 a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0039g0004
a0001c0001t0047g0003
2 HG04115.hp1
NA20129.hp1
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.192+2214G>A
c.192+2214G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156346891
chr5:156346893 G
G
A
A
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.192+2216G>A
c.192+2216G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156346893
chr5:156346923 G
G
A
A
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.192+2246G>A
c.192+2246G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156346923
chr5:156346929 CTGGGACT
others(5): Show 
CTGGGACTACAGG
C
C
1 a0001c0002t0002g0062
a0001c0002t0002g0062
1 HG00558.hp1
HG00558.hp1
intron_variant MODIFIER c.192+2255_192+2266d
others(14): Show 
c.192+2255_192+2266delGGACTACAGGTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156346929
chr5:156347145 T
T
G
G
125 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
125 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(122): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+2468T>G
c.192+2468T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156347145
chr5:156347281 C
C
G
G
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.192+2604C>G
c.192+2604C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156347281
chr5:156347419 A
A
G
G
2 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0012g0059
a0001c0001t0012g0060
2 HG02895.hp2
HG02897.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.192+2742A>G
c.192+2742A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156347419
chr5:156347438 A
A
G
G
2 a0001c0001t0001g0147
a0003c0005t0001g0148
a0001c0001t0001g0147
a0003c0005t0001g0148
2 HG02615.hp2
HG02735.hp1
HG02615.hp2
HG02735.hp1
intron_variant MODIFIER c.192+2761A>G
c.192+2761A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156347438
chr5:156347493 C
C
T
T
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+2816C>T
c.192+2816C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156347493
chr5:156347543 T
T
G
G
62 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(59): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+2866T>G
c.192+2866T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156347543
chr5:156347592 G
G
A
A
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+2915G>A
c.192+2915G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156347592
chr5:156347774 G
G
A
A
61 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(58): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
61 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(58): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+3097G>A
c.192+3097G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156347774
chr5:156347792 A
A
G
G
125 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
125 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(122): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+3115A>G
c.192+3115A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156347792
chr5:156347941 A
A
C
C
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.192+3264A>C
c.192+3264A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156347941
chr5:156347987 T
T
C
C
62 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(59): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+3310T>C
c.192+3310T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156347987
chr5:156347997 C
C
A
A
2 a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0039g0004
a0001c0001t0047g0003
2 HG04115.hp1
NA20129.hp1
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.192+3320C>A
c.192+3320C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156347997
chr5:156348065 T
T
C
C
64 a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0002t0002g0061
others(61): Show 
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
64 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(61): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+3388T>C
c.192+3388T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156348065
chr5:156348066 G
G
A
A
3 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
3 HG01243.hp2
HG02258.hp1
HG03453.hp1
HG01243.hp2
HG02258.hp1
HG03453.hp1
intron_variant MODIFIER c.192+3389G>A
c.192+3389G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156348066
chr5:156348115 A
A
C
C
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+3438A>C
c.192+3438A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156348115
chr5:156348290 C
C
G
G
62 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(59): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+3613C>G
c.192+3613C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156348290
chr5:156348301 A
A
G
G
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+3624A>G
c.192+3624A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156348301
chr5:156348346 C
C
T
T
4 a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
others(1): Show 
a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
4 HG00639.hp2
HG02622.hp2
HG04115.hp1
others(1): Show 
HG00639.hp2
HG02622.hp2
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.192+3669C>T
c.192+3669C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156348346
chr5:156348530 G
G
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.192+3853G>C
c.192+3853G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156348530
chr5:156348598 G
G
A
A
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+3921G>A
c.192+3921G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156348598
chr5:156348633 C
C
T
T
4 a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
others(1): Show 
a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
4 HG00639.hp2
HG02622.hp2
HG04115.hp1
others(1): Show 
HG00639.hp2
HG02622.hp2
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.192+3956C>T
c.192+3956C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156348633
chr5:156348838 C
C
T
T
2 a0001c0002t0050g0072
a0001c0002t0060g0074
a0001c0002t0050g0072
a0001c0002t0060g0074
2 HG02055.hp1
HG02965.hp1
HG02055.hp1
HG02965.hp1
intron_variant MODIFIER c.192+4161C>T
c.192+4161C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156348838
chr5:156348926 A
A
G
G
1 a0001c0001t0007g0126
a0001c0001t0007g0126
1 HG02155.hp2
HG02155.hp2
intron_variant MODIFIER c.192+4249A>G
c.192+4249A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156348926
chr5:156348998 G
G
A
A
62 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(59): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+4321G>A
c.192+4321G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156348998
chr5:156349047 G
G
A
A
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.192+4370G>A
c.192+4370G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156349047
chr5:156349056 T
T
A
A
35 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(32): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
35 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(32): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02056.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA19030.hp1
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.192+4379T>A
c.192+4379T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156349056
chr5:156349260 C
C
T
T
62 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(59): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+4583C>T
c.192+4583C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156349260
chr5:156349290 A
A
G
G
52 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(49): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
52 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(49): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02809.hp2
HG02965.hp1
HG03098.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+4613A>G
c.192+4613A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156349290
chr5:156349398 G
G
GA
GA
16 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(13): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0043g0139
a0001c0006t0018g0145
16 HG01070.hp2
HG01169.hp1
HG01243.hp1
others(13): Show 
HG01070.hp2
HG01169.hp1
HG01243.hp1
HG01981.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03579.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.192+4730dupA
c.192+4730dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156349398
chr5:156349701 CA
CA
C
C
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+5027delA
c.192+5027delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156349701
chr5:156349706 T
T
G
G
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+5029T>G
c.192+5029T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156349706
chr5:156349790 A
A
G
G
8 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
8 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(5): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.192+5113A>G
c.192+5113A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156349790
chr5:156349808 G
G
A
A
5 a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
others(2): Show 
a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0002c0003t0003g0140
5 HG00639.hp2
HG02559.hp1
HG02622.hp2
others(2): Show 
HG00639.hp2
HG02559.hp1
HG02622.hp2
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.192+5131G>A
c.192+5131G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156349808
chr5:156349840 A
A
G
G
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0036g0043
a0001c0001t0037g0042
8 HG02258.hp2
HG02809.hp1
HG02895.hp1
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02895.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.192+5163A>G
c.192+5163A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156349840
chr5:156349886 A
A
C
C
1 a0001c0002t0056g0096
a0001c0002t0056g0096
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.192+5209A>C
c.192+5209A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156349886
chr5:156350169 T
T
A
A
18 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(15): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0002c0003t0003g0140
18 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(15): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03139.hp1
HG03471.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+5492T>A
c.192+5492T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350169
chr5:156350241 A
A
ATATATAT
others(10): Show 
ATATATATATATATATAT
1 a0001c0002t0054g0073
a0001c0002t0054g0073
1 NA18990.hp1
NA18990.hp1
intron_variant MODIFIER c.192+5564_192+5565i
others(19): Show 
c.192+5564_192+5565insTATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350241
chr5:156350243 A
A
T
T
1 a0001c0002t0054g0073
a0001c0002t0054g0073
1 NA18990.hp1
NA18990.hp1
intron_variant MODIFIER c.192+5566A>T
c.192+5566A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350243
chr5:156350245 A
A
T
T
1 a0001c0002t0054g0073
a0001c0002t0054g0073
1 NA18990.hp1
NA18990.hp1
intron_variant MODIFIER c.192+5568A>T
c.192+5568A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350245
chr5:156350247 T
T
TATATATA
others(24): Show 
TATATATATATATATATATATATATATATATA
1 a0001c0002t0002g0093
a0001c0002t0002g0093
1 NA18953.hp2
NA18953.hp2
intron_variant MODIFIER c.192+5570_192+5571i
others(33): Show 
c.192+5570_192+5571insATATATATATATATATATATATATATAT
ATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350247
chr5:156350247 T
T
TTA
TTA
8 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0010
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0043g0139
8 HG01070.hp2
HG01169.hp1
HG01981.hp1
others(5): Show 
HG01070.hp2
HG01169.hp1
HG01981.hp1
HG02559.hp2
HG02630.hp1
HG03098.hp2
HG03225.hp1
NA19030.hp1
intron_variant MODIFIER c.192+5586_192+5587d
others(4): Show 
c.192+5586_192+5587dupAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATA
TTATA
2 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0012g0059
a0001c0001t0012g0060
2 HG02895.hp2
HG02897.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.192+5584_192+5587d
others(6): Show 
c.192+5584_192+5587dupATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATA
TTATATA
2 a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0002g0075
a0001c0002t0002g0109
2 HG02071.hp1
NA19009.hp2
HG02071.hp1
NA19009.hp2
intron_variant MODIFIER c.192+5582_192+5587d
others(8): Show 
c.192+5582_192+5587dupATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(3): Show 
TTATATATATA
2 a0001c0002t0004g0092
a0001c0002t0055g0091
a0001c0002t0004g0092
a0001c0002t0055g0091
2 HG00558.hp2
NA18964.hp2
HG00558.hp2
NA18964.hp2
intron_variant MODIFIER c.192+5578_192+5587d
others(12): Show 
c.192+5578_192+5587dupATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(5): Show 
TTATATATATATA
12 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0077
others(9): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0077
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0059g0002
12 HG00558.hp1
HG01071.hp2
HG02040.hp1
others(9): Show 
HG00558.hp1
HG01071.hp2
HG02040.hp1
HG02129.hp1
HG03486.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
intron_variant MODIFIER c.192+5576_192+5587d
others(14): Show 
c.192+5576_192+5587dupATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(7): Show 
TTATATATATATATA
2 a0001c0002t0002g0095
a0001c0002t0023g0112
a0001c0002t0002g0095
a0001c0002t0023g0112
2 HG03098.hp1
HG03239.hp1
HG03098.hp1
HG03239.hp1
intron_variant MODIFIER c.192+5574_192+5587d
others(16): Show 
c.192+5574_192+5587dupATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(11): Show 
TTATATATATATATATATA
1 a0001c0002t0002g0070
a0001c0002t0002g0070
1 NA18985.hp1
NA18985.hp1
intron_variant MODIFIER c.192+5587_192+5588i
others(20): Show 
c.192+5587_192+5588insATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(13): Show 
TTATATATATATATATATATA
3 a0001c0002t0011g0090
a0001c0002t0050g0072
a0001c0002t0060g0074
a0001c0002t0011g0090
a0001c0002t0050g0072
a0001c0002t0060g0074
3 HG02055.hp1
HG02965.hp1
homoSapiens_chm13v2.hp1
HG02055.hp1
HG02965.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+5587_192+5588i
others(22): Show 
c.192+5587_192+5588insATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(19): Show 
TTATATATATATATATATATATATATA
2 a0001c0001t0001g0146
a0001c0002t0053g0085
a0001c0001t0001g0146
a0001c0002t0053g0085
2 HG02145.hp1
HG03453.hp1
HG02145.hp1
HG03453.hp1
intron_variant MODIFIER c.192+5587_192+5588i
others(28): Show 
c.192+5587_192+5588insATATATATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(21): Show 
TTATATATATATATATATATATATATATA
8 a0001c0001t0001g0143
a0001c0001t0009g0142
a0001c0002t0011g0083
others(5): Show 
a0001c0001t0001g0143
a0001c0001t0009g0142
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0056g0096
a0001c0006t0018g0145
8 HG01243.hp2
HG02257.hp1
HG02258.hp1
others(5): Show 
HG01243.hp2
HG02257.hp1
HG02258.hp1
HG02717.hp1
HG03579.hp1
HG03704.hp1
NA19043.hp1
NA19240.hp1
intron_variant MODIFIER c.192+5587_192+5588i
others(30): Show 
c.192+5587_192+5588insATATATATATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(23): Show 
TTATATATATATATATATATATATATATATA
10 a0001c0002t0002g0080
a0001c0002t0004g0106
a0001c0002t0005g0097
others(7): Show 
a0001c0002t0002g0080
a0001c0002t0004g0106
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0058g0089
10 HG01891.hp2
HG02040.hp2
HG02145.hp2
others(7): Show 
HG01891.hp2
HG02040.hp2
HG02145.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp2
HG03471.hp2
NA18953.hp1
NA19003.hp2
NA20805.hp2
intron_variant MODIFIER c.192+5587_192+5588i
others(32): Show 
c.192+5587_192+5588insATATATATATATATATATATATATATAT
AT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(25): Show 
TTATATATATATATATATATATATATATATATA
1 a0001c0001t0016g0144
a0001c0001t0016g0144
1 HG01243.hp1
HG01243.hp1
intron_variant MODIFIER c.192+5587_192+5588i
others(34): Show 
c.192+5587_192+5588insATATATATATATATATATATATATATAT
ATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(27): Show 
TTATATATATATATATATATATATATATATATATA
5 a0001c0001t0033g0141
a0001c0002t0004g0114
a0001c0002t0013g0030
others(2): Show 
a0001c0001t0033g0141
a0001c0002t0004g0114
a0001c0002t0013g0030
a0001c0002t0024g0100
a0001c0002t0057g0110
5 HG01258.hp1
HG01261.hp1
HG02970.hp2
others(2): Show 
HG01258.hp1
HG01261.hp1
HG02970.hp2
HG03225.hp2
NA18906.hp2
intron_variant MODIFIER c.192+5587_192+5588i
others(36): Show 
c.192+5587_192+5588insATATATATATATATATATATATATATAT
ATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(29): Show 
TTATATATATATATATATATATATATATATATATATA
4 a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0008g0105
others(1): Show 
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0022g0029
4 HG00639.hp1
HG02056.hp2
NA19090.hp1
others(1): Show 
HG00639.hp1
HG02056.hp2
NA19090.hp1
NA20300.hp2
intron_variant MODIFIER c.192+5587_192+5588i
others(38): Show 
c.192+5587_192+5588insATATATATATATATATATATATATATAT
ATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(31): Show 
TTATATATATATATATATATATATATATATATATATATA
5 a0001c0002t0002g0069
a0001c0002t0002g0087
a0001c0002t0002g0102
others(2): Show 
a0001c0002t0002g0069
a0001c0002t0002g0087
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0051g0099
5 NA19057.hp1
NA19066.hp2
NA19090.hp2
others(2): Show 
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
intron_variant MODIFIER c.192+5587_192+5588i
others(40): Show 
c.192+5587_192+5588insATATATATATATATATATATATATATAT
ATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(33): Show 
TTATATATATATATATATATATATATATATATATATATATA
4 a0001c0002t0005g0082
a0001c0002t0015g0086
a0001c0002t0024g0063
others(1): Show 
a0001c0002t0005g0082
a0001c0002t0015g0086
a0001c0002t0024g0063
a0001c0002t0061g0103
4 HG02809.hp2
HG03490.hp2
NA19003.hp1
others(1): Show 
HG02809.hp2
HG03490.hp2
NA19003.hp1
NA19011.hp1
intron_variant MODIFIER c.192+5587_192+5588i
others(42): Show 
c.192+5587_192+5588insATATATATATATATATATATATATATAT
ATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(35): Show 
TTATATATATATATATATATATATATATATATATATATATATA
3 a0001c0002t0002g0098
a0001c0002t0008g0115
a0001c0002t0023g0071
a0001c0002t0002g0098
a0001c0002t0008g0115
a0001c0002t0023g0071
3 HG01516.hp1
HG01981.hp2
NA18964.hp1
HG01516.hp1
HG01981.hp2
NA18964.hp1
intron_variant MODIFIER c.192+5587_192+5588i
others(44): Show 
c.192+5587_192+5588insATATATATATATATATATATATATATAT
ATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350247 T
T
TTATATAT
others(39): Show 
TTATATATATATATATATATATATATATATATATATATATATATATA
1 a0001c0002t0015g0078
a0001c0002t0015g0078
1 HG02155.hp1
HG02155.hp1
intron_variant MODIFIER c.192+5587_192+5588i
others(48): Show 
c.192+5587_192+5588insATATATATATATATATATATATATATAT
ATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156350247
chr5:156350388 G
G
A
A
18 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(15): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0002c0003t0003g0140
18 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(15): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03139.hp1
HG03471.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+5711G>A
c.192+5711G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350388
chr5:156350401 G
G
A
A
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.192+5724G>A
c.192+5724G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350401
chr5:156350498 C
C
G
G
61 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(58): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
61 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(58): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+5821C>G
c.192+5821C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350498
chr5:156350509 A
A
G
G
20 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(17): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0002c0003t0003g0140
20 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(17): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+5832A>G
c.192+5832A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350509
chr5:156350703 C
C
G
G
29 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
29 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(26): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02056.hp1
HG02129.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03225.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA19030.hp1
NA20805.hp1
intron_variant MODIFIER c.192+6026C>G
c.192+6026C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350703
chr5:156350761 C
C
T
T
2 a0001c0001t0001g0147
a0003c0005t0001g0148
a0001c0001t0001g0147
a0003c0005t0001g0148
2 HG02615.hp2
HG02735.hp1
HG02615.hp2
HG02735.hp1
intron_variant MODIFIER c.192+6084C>T
c.192+6084C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350761
chr5:156350801 T
T
G
G
9 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0011g0051
9 HG01256.hp1
HG01258.hp2
HG02071.hp2
others(6): Show 
HG01256.hp1
HG01258.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+6124T>G
c.192+6124T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350801
chr5:156350822 T
T
G
G
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+6145T>G
c.192+6145T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350822
chr5:156350881 A
A
G
G
1 a0001c0001t0001g0058
a0001c0001t0001g0058
1 HG02559.hp2
HG02559.hp2
intron_variant MODIFIER c.192+6204A>G
c.192+6204A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156350881
chr5:156351089 C
C
A
A
1 a0001c0002t0002g0062
a0001c0002t0002g0062
1 HG00558.hp1
HG00558.hp1
intron_variant MODIFIER c.192+6412C>A
c.192+6412C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156351089
chr5:156351318 G
G
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.192+6641G>A
c.192+6641G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156351318
chr5:156351319 G
G
A
A
3 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
3 HG01243.hp2
HG02258.hp1
HG03453.hp1
HG01243.hp2
HG02258.hp1
HG03453.hp1
intron_variant MODIFIER c.192+6642G>A
c.192+6642G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156351319
chr5:156351512 G
G
C
C
2 a0001c0002t0002g0107
a0001c0002t0008g0006
a0001c0002t0002g0107
a0001c0002t0008g0006
2 HG02040.hp1
HG02129.hp1
HG02040.hp1
HG02129.hp1
intron_variant MODIFIER c.192+6835G>C
c.192+6835G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156351512
chr5:156351603 G
G
GTCA
GTCA
16 a0001c0001t0001g0019
a0001c0001t0001g0058
a0001c0001t0001g0143
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0006t0018g0145
16 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(13): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01981.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03579.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.192+6967_192+6969d
others(5): Show 
c.192+6967_192+6969dupCAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156351603
chr5:156351603 GTCA
GTCA
G
G
60 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(57): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0017g0014
a0003c0005t0001g0148
60 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(57): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02155.hp1
HG02257.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+6967_192+6969d
others(5): Show 
c.192+6967_192+6969delCAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156351603
chr5:156351603 GTCATCA
GTCATCA
G
G
6 a0001c0001t0001g0054
a0001c0001t0001g0150
a0001c0001t0021g0027
others(3): Show 
a0001c0001t0001g0054
a0001c0001t0001g0150
a0001c0001t0021g0027
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0015g0086
6 HG00639.hp2
HG02622.hp2
HG02809.hp2
others(3): Show 
HG00639.hp2
HG02622.hp2
HG02809.hp2
HG02965.hp2
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+6964_192+6969d
others(8): Show 
c.192+6964_192+6969delCATCAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156351603
chr5:156351603 GTCATCAT
others(2): Show 
GTCATCATCA
G
G
12 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(9): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
12 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(9): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+6961_192+6969d
others(11): Show 
c.192+6961_192+6969delCATCATCAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156351603
chr5:156351734 C
C
T
T
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(115): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+7057C>T
c.192+7057C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156351734
chr5:156351912 T
T
G
G
10 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
others(7): Show 
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0053g0085
10 HG01243.hp2
HG02258.hp1
HG02717.hp1
others(7): Show 
HG01243.hp2
HG02258.hp1
HG02717.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
HG03471.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.192+7235T>G
c.192+7235T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156351912
chr5:156351972 TA
TA
T
T
13 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
13 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(10): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+7298delA
c.192+7298delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156351972
chr5:156352066 T
T
G
G
9 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0011g0051
9 HG01256.hp1
HG01258.hp2
HG02071.hp2
others(6): Show 
HG01256.hp1
HG01258.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+7389T>G
c.192+7389T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156352066
chr5:156352158 A
A
G
G
96 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(93): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
96 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(93): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+7481A>G
c.192+7481A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156352158
chr5:156352291 C
C
T
T
61 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(58): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
61 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(58): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+7614C>T
c.192+7614C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156352291
chr5:156352425 G
G
A
A
2 a0001c0001t0003g0018
a0001c0001t0032g0020
a0001c0001t0003g0018
a0001c0001t0032g0020
2 HG02056.hp1
HG03490.hp1
HG02056.hp1
HG03490.hp1
intron_variant MODIFIER c.192+7748G>A
c.192+7748G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156352425
chr5:156352723 C
C
T
T
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.192+8046C>T
c.192+8046C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156352723
chr5:156352835 T
T
C
C
2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
2 HG02055.hp2
HG02717.hp2
HG02055.hp2
HG02717.hp2
intron_variant MODIFIER c.192+8158T>C
c.192+8158T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156352835
chr5:156352917 C
C
A
A
27 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(24): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
27 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(24): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03225.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA20805.hp1
intron_variant MODIFIER c.192+8240C>A
c.192+8240C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156352917
chr5:156353022 A
A
G
G
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.192+8345A>G
c.192+8345A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156353022
chr5:156353490 G
G
C
C
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.192+8813G>C
c.192+8813G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156353490
chr5:156353496 T
T
C
C
19 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(16): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
19 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(16): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+8819T>C
c.192+8819T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156353496
chr5:156353548 A
A
G
G
33 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(30): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
33 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(30): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.192+8871A>G
c.192+8871A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156353548
chr5:156353845 C
C
T
T
27 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
others(24): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
27 HG00639.hp2
HG01256.hp1
HG01258.hp2
others(24): Show 
HG00639.hp2
HG01256.hp1
HG01258.hp2
HG02055.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02622.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA19002.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+9168C>T
c.192+9168C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156353845
chr5:156353875 C
C
T
T
27 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
others(24): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
27 HG00639.hp2
HG01256.hp1
HG01258.hp2
others(24): Show 
HG00639.hp2
HG01256.hp1
HG01258.hp2
HG02055.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02622.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA19002.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+9198C>T
c.192+9198C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156353875
chr5:156354053 AC
AC
A
A
27 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
others(24): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
27 HG00639.hp2
HG01256.hp1
HG01258.hp2
others(24): Show 
HG00639.hp2
HG01256.hp1
HG01258.hp2
HG02055.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02622.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA19002.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+9377delC
c.192+9377delC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156354053
chr5:156354109 A
A
G
G
27 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
others(24): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
27 HG00639.hp2
HG01256.hp1
HG01258.hp2
others(24): Show 
HG00639.hp2
HG01256.hp1
HG01258.hp2
HG02055.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02622.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA19002.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+9432A>G
c.192+9432A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156354109
chr5:156354195 AGTTAGAG
others(7): Show 
AGTTAGAGGGCACTG
A
A
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.192+9520_192+9533d
others(16): Show 
c.192+9520_192+9533delTTAGAGGGCACTGG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156354195
chr5:156354199 A
A
G
G
2 a0001c0001t0001g0147
a0003c0005t0001g0148
a0001c0001t0001g0147
a0003c0005t0001g0148
2 HG02615.hp2
HG02735.hp1
HG02615.hp2
HG02735.hp1
intron_variant MODIFIER c.192+9522A>G
c.192+9522A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156354199
chr5:156354547 G
G
A
A
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.192+9870G>A
c.192+9870G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156354547
chr5:156354577 A
A
G
G
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.192+9900A>G
c.192+9900A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156354577
chr5:156354856 G
G
A
A
33 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(30): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
33 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(30): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.192+10179G>A
c.192+10179G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156354856
chr5:156354946 T
T
A
A
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.192+10269T>A
c.192+10269T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156354946
chr5:156355048 T
T
C
C
64 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0061
others(61): Show 
a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
64 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(61): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+10371T>C
c.192+10371T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156355048
chr5:156355421 C
C
CTCA
CTCA
2 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0050
a0001c0001t0001g0052
2 HG02257.hp2
NA18522.hp2
HG02257.hp2
NA18522.hp2
intron_variant MODIFIER c.192+10744_192+1074
others(7): Show 
c.192+10744_192+10745insTCA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156355421
chr5:156355422 A
A
T
T
2 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0050
a0001c0001t0001g0052
2 HG02257.hp2
NA18522.hp2
HG02257.hp2
NA18522.hp2
intron_variant MODIFIER c.192+10745A>T
c.192+10745A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156355422
chr5:156355426 T
T
TTCTTTTC
others(30): Show 
TTCTTTTCAATATTCTTTTCAATTTCTTCTTTTCAATA
2 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0050
a0001c0001t0001g0052
2 HG02257.hp2
NA18522.hp2
HG02257.hp2
NA18522.hp2
intron_variant MODIFIER c.192+10749_192+1075
others(41): Show 
c.192+10749_192+10750insTCTTTTCAATATTCTTTTCAATTTCT
TCTTTTCAATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156355426
chr5:156355427 G
G
T
T
2 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0050
a0001c0001t0001g0052
2 HG02257.hp2
NA18522.hp2
HG02257.hp2
NA18522.hp2
intron_variant MODIFIER c.192+10750G>T
c.192+10750G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156355427
chr5:156355430 T
T
C
C
20 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(17): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0002c0003t0003g0140
20 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(17): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+10753T>C
c.192+10753T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156355430
chr5:156355794 G
G
A
A
1 a0001c0002t0011g0051
a0001c0002t0011g0051
1 HG02071.hp2
HG02071.hp2
intron_variant MODIFIER c.192+11117G>A
c.192+11117G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156355794
chr5:156355890 G
G
A
A
1 a0001c0002t0002g0069
a0001c0002t0002g0069
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.192+11213G>A
c.192+11213G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156355890
chr5:156355914 T
T
G
G
6 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(3): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
6 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(3): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.192+11237T>G
c.192+11237T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156355914
chr5:156355956 G
G
A
A
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.192+11279G>A
c.192+11279G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156355956
chr5:156356129 C
C
T
T
1 a0001c0002t0015g0086
a0001c0002t0015g0086
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.192+11452C>T
c.192+11452C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356129
chr5:156356146 A
A
G
G
64 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0061
others(61): Show 
a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
64 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(61): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+11469A>G
c.192+11469A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356146
chr5:156356224 G
G
A
A
64 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0061
others(61): Show 
a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
64 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(61): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+11547G>A
c.192+11547G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356224
chr5:156356284 C
C
T
T
124 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(121): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
124 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(121): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+11607C>T
c.192+11607C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356284
chr5:156356312 A
A
G
G
64 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0061
others(61): Show 
a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
64 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(61): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+11635A>G
c.192+11635A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356312
chr5:156356314 T
T
C
C
124 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(121): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
124 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(121): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+11637T>C
c.192+11637T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356314
chr5:156356365 G
G
C
C
4 a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
others(1): Show 
a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
4 HG00639.hp2
HG02622.hp2
HG04115.hp1
others(1): Show 
HG00639.hp2
HG02622.hp2
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.192+11688G>C
c.192+11688G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356365
chr5:156356460 A
A
G
G
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+11783A>G
c.192+11783A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356460
chr5:156356510 T
T
G
G
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.192+11833T>G
c.192+11833T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356510
chr5:156356664 G
G
A
A
2 a0001c0001t0001g0147
a0003c0005t0001g0148
a0001c0001t0001g0147
a0003c0005t0001g0148
2 HG02615.hp2
HG02735.hp1
HG02615.hp2
HG02735.hp1
intron_variant MODIFIER c.192+11987G>A
c.192+11987G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356664
chr5:156356679 A
A
G
G
1 a0001c0001t0001g0045
a0001c0001t0001g0045
1 NA19002.hp2
NA19002.hp2
intron_variant MODIFIER c.192+12002A>G
c.192+12002A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356679
chr5:156356814 G
G
C
C
8 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
8 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(5): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.192+12137G>C
c.192+12137G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356814
chr5:156356824 C
C
T
T
1 a0001c0001t0003g0125
a0001c0001t0003g0125
1 HG01081.hp2
HG01081.hp2
intron_variant MODIFIER c.192+12147C>T
c.192+12147C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356824
chr5:156356836 G
G
A
A
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+12159G>A
c.192+12159G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356836
chr5:156356961 G
G
A
A
8 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
8 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(5): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.192+12284G>A
c.192+12284G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156356961
chr5:156357142 C
C
G
G
2 a0001c0001t0001g0147
a0003c0005t0001g0148
a0001c0001t0001g0147
a0003c0005t0001g0148
2 HG02615.hp2
HG02735.hp1
HG02615.hp2
HG02735.hp1
intron_variant MODIFIER c.192+12465C>G
c.192+12465C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156357142
chr5:156357265 A
A
G
G
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.192+12588A>G
c.192+12588A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156357265
chr5:156357461 G
G
A
A
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+12784G>A
c.192+12784G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156357461
chr5:156357792 A
A
G
G
64 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0061
others(61): Show 
a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
64 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(61): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+13115A>G
c.192+13115A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156357792
chr5:156357802 G
G
A
A
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+13125G>A
c.192+13125G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156357802
chr5:156357900 A
A
G
G
52 a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
others(49): Show 
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
52 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(49): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02809.hp2
HG02965.hp1
HG03098.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+13223A>G
c.192+13223A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156357900
chr5:156357904 G
G
A
A
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.192+13227G>A
c.192+13227G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156357904
chr5:156357914 A
A
G
G
87 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
others(84): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
87 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(84): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+13237A>G
c.192+13237A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156357914
chr5:156357973 T
T
C
C
5 a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
others(2): Show 
a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0002c0003t0003g0140
5 HG00639.hp2
HG02559.hp1
HG02622.hp2
others(2): Show 
HG00639.hp2
HG02559.hp1
HG02622.hp2
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.192+13296T>C
c.192+13296T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156357973
chr5:156358105 C
C
G
G
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.192+13428C>G
c.192+13428C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156358105
chr5:156358411 G
G
A
A
125 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
125 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(122): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+13734G>A
c.192+13734G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156358411
chr5:156358519 C
C
T
T
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+13842C>T
c.192+13842C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156358519
chr5:156358682 A
A
G
G
13 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
13 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(10): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+14005A>G
c.192+14005A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156358682
chr5:156359079 G
G
C
C
125 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
125 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(122): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+14402G>C
c.192+14402G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156359079
chr5:156359191 A
A
G
G
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.192+14514A>G
c.192+14514A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156359191
chr5:156359356 A
A
G
G
13 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
13 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(10): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+14679A>G
c.192+14679A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156359356
chr5:156360021 C
C
G
G
2 a0001c0001t0003g0018
a0001c0001t0032g0020
a0001c0001t0003g0018
a0001c0001t0032g0020
2 HG02056.hp1
HG03490.hp1
HG02056.hp1
HG03490.hp1
intron_variant MODIFIER c.192+15344C>G
c.192+15344C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156360021
chr5:156360245 AT
AT
A
A
20 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(17): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0004g0114
a0001c0002t0011g0051
a0001c0006t0018g0145
20 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(17): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02622.hp2
HG02723.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
HG04115.hp1
NA18522.hp2
NA19002.hp2
NA19043.hp1
NA20129.hp1
intron_variant MODIFIER c.192+15586delT
c.192+15586delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156360245
chr5:156360245 ATT
ATT
A
A
76 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(73): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
76 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(73): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp2
HG03704.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+15585_192+1558
others(6): Show 
c.192+15585_192+15586delTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156360245
chr5:156360570 G
G
T
T
1 a0001c0002t0008g0076
a0001c0002t0008g0076
1 NA19010.hp1
NA19010.hp1
intron_variant MODIFIER c.192+15893G>T
c.192+15893G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156360570
chr5:156360607 A
A
G
G
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+15930A>G
c.192+15930A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156360607
chr5:156360663 G
G
T
T
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.192+15986G>T
c.192+15986G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156360663
chr5:156361067 C
C
T
T
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.192+16390C>T
c.192+16390C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156361067
chr5:156361173 C
C
T
T
29 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
29 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(26): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03486.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA20805.hp1
intron_variant MODIFIER c.192+16496C>T
c.192+16496C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156361173
chr5:156361206 C
C
A
A
2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
2 HG02055.hp2
HG02717.hp2
HG02055.hp2
HG02717.hp2
intron_variant MODIFIER c.192+16529C>A
c.192+16529C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156361206
chr5:156361282 C
C
T
T
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+16605C>T
c.192+16605C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156361282
chr5:156361600 G
G
C
C
8 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
8 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(5): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.192+16923G>C
c.192+16923G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156361600
chr5:156361700 T
T
C
C
9 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0011g0051
9 HG01256.hp1
HG01258.hp2
HG02071.hp2
others(6): Show 
HG01256.hp1
HG01258.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+17023T>C
c.192+17023T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156361700
chr5:156361783 A
A
G
G
2 a0001c0001t0001g0054
a0001c0001t0048g0053
a0001c0001t0001g0054
a0001c0001t0048g0053
2 HG00639.hp2
HG02622.hp2
HG00639.hp2
HG02622.hp2
intron_variant MODIFIER c.192+17106A>G
c.192+17106A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156361783
chr5:156361806 C
C
G
G
93 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
others(90): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
93 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(90): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01071.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+17129C>G
c.192+17129C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156361806
chr5:156362159 A
A
G
G
20 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
others(17): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0002c0003t0003g0140
20 HG00639.hp2
HG02055.hp2
HG02258.hp2
others(17): Show 
HG00639.hp2
HG02055.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.192+17482A>G
c.192+17482A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156362159
chr5:156362372 A
A
G
G
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(115): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+17695A>G
c.192+17695A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156362372
chr5:156362373 C
C
T
T
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+17696C>T
c.192+17696C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156362373
chr5:156362422 C
C
T
T
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+17745C>T
c.192+17745C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156362422
chr5:156362442 C
C
T
T
126 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
126 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(123): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+17765C>T
c.192+17765C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156362442
chr5:156362510 G
G
A
A
1 a0001c0001t0035g0127
a0001c0001t0035g0127
1 HG01169.hp2
HG01169.hp2
intron_variant MODIFIER c.192+17833G>A
c.192+17833G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156362510
chr5:156362670 G
G
A
A
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+17993G>A
c.192+17993G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156362670
chr5:156362682 G
G
A
A
2 a0001c0001t0001g0147
a0003c0005t0001g0148
a0001c0001t0001g0147
a0003c0005t0001g0148
2 HG02615.hp2
HG02735.hp1
HG02615.hp2
HG02735.hp1
intron_variant MODIFIER c.192+18005G>A
c.192+18005G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156362682
chr5:156362740 C
C
T
T
2 a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0005g0047
a0001c0001t0021g0046
2 HG01256.hp1
HG01258.hp2
HG01256.hp1
HG01258.hp2
intron_variant MODIFIER c.192+18063C>T
c.192+18063C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156362740
chr5:156362759 G
G
A
A
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.192+18082G>A
c.192+18082G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156362759
chr5:156363014 G
G
A
A
2 a0001c0001t0006g0038
a0001c0001t0018g0039
a0001c0001t0006g0038
a0001c0001t0018g0039
2 HG02809.hp1
NA19030.hp2
HG02809.hp1
NA19030.hp2
intron_variant MODIFIER c.192+18337G>A
c.192+18337G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156363014
chr5:156363020 A
A
C
C
35 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(32): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
35 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(32): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.192+18343A>C
c.192+18343A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156363020
chr5:156363192 A
A
G
G
2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
2 HG02055.hp2
HG02717.hp2
HG02055.hp2
HG02717.hp2
intron_variant MODIFIER c.192+18515A>G
c.192+18515A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156363192
chr5:156363199 C
C
T
T
1 a0001c0001t0001g0058
a0001c0001t0001g0058
1 HG02559.hp2
HG02559.hp2
intron_variant MODIFIER c.192+18522C>T
c.192+18522C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156363199
chr5:156363269 T
T
C
C
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.192+18592T>C
c.192+18592T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156363269
chr5:156363441 A
A
C
C
1 a0001c0002t0010g0001
a0001c0002t0010g0001
1 NA18990.hp2
NA18990.hp2
intron_variant MODIFIER c.192+18764A>C
c.192+18764A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156363441
chr5:156363461 G
G
A
A
17 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(14): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0004c0007t0020g0012
17 HG01081.hp1
HG01261.hp2
HG01516.hp2
others(14): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02897.hp2
HG02922.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA20805.hp1
intron_variant MODIFIER c.192+18784G>A
c.192+18784G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156363461
chr5:156363804 T
T
G
G
1 a0001c0001t0014g0048
a0001c0001t0014g0048
1 HG02723.hp1
HG02723.hp1
intron_variant MODIFIER c.192+19127T>G
c.192+19127T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156363804
chr5:156363865 T
T
G
G
5 a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
others(2): Show 
a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0002c0003t0003g0140
5 HG00639.hp2
HG02559.hp1
HG02622.hp2
others(2): Show 
HG00639.hp2
HG02559.hp1
HG02622.hp2
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.192+19188T>G
c.192+19188T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156363865
chr5:156363993 T
T
C
C
63 a0001c0001t0003g0136
a0001c0002t0002g0061
a0001c0002t0002g0062
others(60): Show 
a0001c0001t0003g0136
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
63 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(60): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+19316T>C
c.192+19316T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156363993
chr5:156364157 G
G
A
A
1 a0001c0002t0002g0062
a0001c0002t0002g0062
1 HG00558.hp1
HG00558.hp1
intron_variant MODIFIER c.192+19480G>A
c.192+19480G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156364157
chr5:156364164 TG
TG
T
T
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+19490delG
c.192+19490delG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156364164
chr5:156364171 A
A
C
C
17 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(14): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0004c0007t0020g0012
17 HG01081.hp1
HG01261.hp2
HG01516.hp2
others(14): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02897.hp2
HG02922.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA20805.hp1
intron_variant MODIFIER c.192+19494A>C
c.192+19494A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156364171
chr5:156364191 G
G
A
A
8 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
8 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(5): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.192+19514G>A
c.192+19514G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156364191
chr5:156364210 T
T
C
C
126 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
126 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(123): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+19533T>C
c.192+19533T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156364210
chr5:156364369 AT
AT
A
A
76 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(73): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
76 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(73): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp2
HG03704.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+19703delT
c.192+19703delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156364369
chr5:156364538 T
T
A
A
1 a0001c0001t0045g0137
a0001c0001t0045g0137
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.192+19861T>A
c.192+19861T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156364538
chr5:156364577 G
G
T
T
4 a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0022g0064
others(1): Show 
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0022g0064
a0001c0001t0042g0065
4 HG02723.hp2
HG02922.hp2
HG02970.hp1
others(1): Show 
HG02723.hp2
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.192+19900G>T
c.192+19900G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156364577
chr5:156364733 A
A
T
T
10 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
others(7): Show 
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0053g0085
10 HG01243.hp2
HG02258.hp1
HG02717.hp1
others(7): Show 
HG01243.hp2
HG02258.hp1
HG02717.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
HG03471.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.192+20056A>T
c.192+20056A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156364733
chr5:156364950 G
G
A
A
1 a0001c0001t0040g0131
a0001c0001t0040g0131
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.192+20273G>A
c.192+20273G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156364950
chr5:156365019 T
T
C
C
13 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
13 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(10): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+20342T>C
c.192+20342T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365019
chr5:156365104 G
G
T
T
29 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
29 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(26): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03486.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA20805.hp1
intron_variant MODIFIER c.192+20427G>T
c.192+20427G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365104
chr5:156365164 A
A
G
G
131 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(128): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
131 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(128): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+20487A>G
c.192+20487A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365164
chr5:156365171 A
A
G
G
7 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(4): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0038g0044
a0001c0002t0011g0051
7 HG02071.hp2
HG02083.hp1
HG02257.hp2
others(4): Show 
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+20494A>G
c.192+20494A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365171
chr5:156365315 T
T
C
C
12 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(9): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
12 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(9): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+20638T>C
c.192+20638T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365315
chr5:156365404 T
T
C
C
9 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0011g0051
9 HG01256.hp1
HG01258.hp2
HG02071.hp2
others(6): Show 
HG01256.hp1
HG01258.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+20727T>C
c.192+20727T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365404
chr5:156365435 A
A
G
G
1 a0001c0001t0006g0066
a0001c0001t0006g0066
1 HG02970.hp1
HG02970.hp1
intron_variant MODIFIER c.192+20758A>G
c.192+20758A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365435
chr5:156365569 C
C
T
T
62 a0001c0001t0003g0136
a0001c0002t0002g0061
a0001c0002t0002g0062
others(59): Show 
a0001c0001t0003g0136
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+20892C>T
c.192+20892C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365569
chr5:156365588 C
C
T
T
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.192+20911C>T
c.192+20911C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365588
chr5:156365677 T
T
G
G
2 a0001c0002t0050g0072
a0001c0002t0060g0074
a0001c0002t0050g0072
a0001c0002t0060g0074
2 HG02055.hp1
HG02965.hp1
HG02055.hp1
HG02965.hp1
intron_variant MODIFIER c.192+21000T>G
c.192+21000T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365677
chr5:156365710 A
A
G
G
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+21033A>G
c.192+21033A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365710
chr5:156365771 C
C
CTATA
CTATA
35 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(32): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
35 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(32): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.192+21096_192+2109
others(8): Show 
c.192+21096_192+21099dupATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156365771
chr5:156365778 T
T
C
C
63 a0001c0001t0003g0136
a0001c0002t0002g0061
a0001c0002t0002g0062
others(60): Show 
a0001c0001t0003g0136
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
63 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(60): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+21101T>C
c.192+21101T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365778
chr5:156365856 G
G
A
A
13 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
13 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(10): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+21179G>A
c.192+21179G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365856
chr5:156365911 CAT
CAT
C
C
65 a0001c0001t0003g0136
a0001c0001t0012g0010
a0001c0001t0027g0011
others(62): Show 
a0001c0001t0003g0136
a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
65 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(62): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+21240_192+2124
others(6): Show 
c.192+21240_192+21241delTA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156365911
chr5:156365933 T
T
C
C
35 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(32): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
35 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(32): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.192+21256T>C
c.192+21256T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156365933
chr5:156366152 G
G
A
A
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+21475G>A
c.192+21475G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156366152
chr5:156366194 C
C
A
A
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+21517C>A
c.192+21517C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156366194
chr5:156366427 C
C
T
T
2 a0001c0001t0006g0037
a0001c0001t0036g0043
a0001c0001t0006g0037
a0001c0001t0036g0043
2 HG02258.hp2
NA18906.hp1
HG02258.hp2
NA18906.hp1
intron_variant MODIFIER c.192+21750C>T
c.192+21750C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156366427
chr5:156366635 A
A
T
T
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+21958A>T
c.192+21958A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156366635
chr5:156366636 G
G
T
T
130 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
130 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(127): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+21959G>T
c.192+21959G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156366636
chr5:156366938 G
G
C
C
8 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
8 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(5): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.192+22261G>C
c.192+22261G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156366938
chr5:156366965 A
A
C
C
9 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0011g0051
9 HG01256.hp1
HG01258.hp2
HG02071.hp2
others(6): Show 
HG01256.hp1
HG01258.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+22288A>C
c.192+22288A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156366965
chr5:156366975 A
A
G
G
3 a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0040g0131
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0040g0131
3 HG01081.hp2
HG01109.hp1
HG03239.hp2
HG01081.hp2
HG01109.hp1
HG03239.hp2
intron_variant MODIFIER c.192+22298A>G
c.192+22298A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156366975
chr5:156367087 G
G
A
A
7 a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
others(4): Show 
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
7 HG02717.hp1
HG02970.hp2
HG03041.hp1
others(4): Show 
HG02717.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03471.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.192+22410G>A
c.192+22410G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156367087
chr5:156367378 AAAC
AAAC
A
A
13 a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0001g0150
others(10): Show 
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
a0001c0001t0049g0149
a0001c0002t0002g0062
a0003c0005t0001g0148
13 HG00558.hp1
HG01070.hp2
HG01169.hp1
others(10): Show 
HG00558.hp1
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02615.hp2
HG02630.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03486.hp1
intron_variant MODIFIER c.192+22714_192+2271
others(7): Show 
c.192+22714_192+22716delAAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156367378
chr5:156367415 A
A
G
G
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+22738A>G
c.192+22738A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156367415
chr5:156367548 A
A
G
G
1 a0001c0002t0011g0090
a0001c0002t0011g0090
1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+22871A>G
c.192+22871A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156367548
chr5:156367614 A
A
G
G
35 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(32): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
35 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(32): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.192+22937A>G
c.192+22937A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156367614
chr5:156367688 G
G
T
T
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.192+23011G>T
c.192+23011G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156367688
chr5:156367725 G
G
A
A
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+23048G>A
c.192+23048G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156367725
chr5:156367810 G
G
A
A
6 a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
others(3): Show 
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
6 HG02717.hp1
HG02970.hp2
HG03041.hp1
others(3): Show 
HG02717.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.192+23133G>A
c.192+23133G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156367810
chr5:156368082 C
C
T
T
2 a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0004g0104
a0001c0002t0008g0105
2 HG02056.hp2
NA19090.hp1
HG02056.hp2
NA19090.hp1
intron_variant MODIFIER c.192+23405C>T
c.192+23405C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156368082
chr5:156368088 C
C
CT
CT
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+23422dupT
c.192+23422dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156368088
chr5:156368113 C
C
T
T
4 a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0002t0024g0063
others(1): Show 
a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0002t0024g0063
a0001c0002t0051g0099
4 HG01256.hp1
HG01258.hp2
NA19003.hp1
others(1): Show 
HG01256.hp1
HG01258.hp2
NA19003.hp1
NA19066.hp2
intron_variant MODIFIER c.192+23436C>T
c.192+23436C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156368113
chr5:156368216 G
G
A
A
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+23539G>A
c.192+23539G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156368216
chr5:156368249 C
C
T
T
64 a0001c0001t0003g0136
a0001c0001t0012g0010
a0001c0001t0027g0011
others(61): Show 
a0001c0001t0003g0136
a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
64 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(61): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+23572C>T
c.192+23572C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156368249
chr5:156368298 G
G
A
A
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.192+23621G>A
c.192+23621G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156368298
chr5:156368322 A
A
C
C
35 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(32): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
35 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(32): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA19043.hp1
NA20805.hp1
intron_variant MODIFIER c.192+23645A>C
c.192+23645A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156368322
chr5:156368649 A
A
AC
AC
4 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0009g0049
others(1): Show 
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0009g0049
a0001c0001t0014g0048
4 HG02257.hp2
HG02723.hp1
HG03139.hp2
others(1): Show 
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
intron_variant MODIFIER c.192+23974dupC
c.192+23974dupC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156368649
chr5:156368805 T
T
C
C
2 a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0005g0047
a0001c0001t0021g0046
2 HG01256.hp1
HG01258.hp2
HG01256.hp1
HG01258.hp2
intron_variant MODIFIER c.192+24128T>C
c.192+24128T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156368805
chr5:156369043 T
T
C
C
5 a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
others(2): Show 
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0022g0064
a0001c0001t0042g0065
5 HG01109.hp2
HG02723.hp2
HG02922.hp2
others(2): Show 
HG01109.hp2
HG02723.hp2
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.192+24366T>C
c.192+24366T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156369043
chr5:156369101 G
G
A
A
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+24424G>A
c.192+24424G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156369101
chr5:156369705 G
G
T
T
4 a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0134
others(1): Show 
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0134
a0001c0001t0007g0138
4 NA18966.hp1
NA18985.hp2
NA19011.hp2
others(1): Show 
NA18966.hp1
NA18985.hp2
NA19011.hp2
NA19066.hp1
intron_variant MODIFIER c.192+25028G>T
c.192+25028G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156369705
chr5:156369743 G
G
A
A
108 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(105): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
108 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(105): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+25066G>A
c.192+25066G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156369743
chr5:156369756 T
T
C
C
12 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(9): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0002c0003t0017g0014
a0004c0007t0020g0012
12 HG01081.hp1
HG01261.hp2
HG01516.hp2
others(9): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02698.hp2
HG02897.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA20805.hp1
intron_variant MODIFIER c.192+25079T>C
c.192+25079T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156369756
chr5:156369862 G
G
T
T
3 a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0040g0131
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0040g0131
3 HG01081.hp2
HG01109.hp1
HG03239.hp2
HG01081.hp2
HG01109.hp1
HG03239.hp2
intron_variant MODIFIER c.192+25185G>T
c.192+25185G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156369862
chr5:156369938 T
T
G
G
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.192+25261T>G
c.192+25261T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156369938
chr5:156370049 TGGCTTGA
others(4): Show 
TGGCTTGAGTCA
T
T
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.192+25375_192+2538
others(15): Show 
c.192+25375_192+25385delCTTGAGTCAGG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156370049
chr5:156370089 G
G
T
T
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.192+25412G>T
c.192+25412G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156370089
chr5:156370125 A
A
C
C
1 a0001c0002t0002g0080
a0001c0002t0002g0080
1 HG02040.hp2
HG02040.hp2
intron_variant MODIFIER c.192+25448A>C
c.192+25448A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156370125
chr5:156370130 G
G
A
A
1 a0001c0002t0013g0030
a0001c0002t0013g0030
1 HG02970.hp2
HG02970.hp2
intron_variant MODIFIER c.192+25453G>A
c.192+25453G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156370130
chr5:156370247 T
T
C
C
28 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
28 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(25): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03486.hp1
HG03490.hp1
HG04115.hp2
NA18522.hp1
NA20805.hp1
intron_variant MODIFIER c.192+25570T>C
c.192+25570T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156370247
chr5:156370479 A
A
G
G
5 a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
others(2): Show 
a0001c0001t0001g0068
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0022g0064
a0001c0001t0042g0065
5 HG01109.hp2
HG02723.hp2
HG02922.hp2
others(2): Show 
HG01109.hp2
HG02723.hp2
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.192+25802A>G
c.192+25802A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156370479
chr5:156370790 G
G
C
C
1 a0001c0002t0004g0104
a0001c0002t0004g0104
1 HG02056.hp2
HG02056.hp2
intron_variant MODIFIER c.192+26113G>C
c.192+26113G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156370790
chr5:156370824 G
G
A
A
27 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(24): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
27 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(24): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03225.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA20805.hp1
intron_variant MODIFIER c.192+26147G>A
c.192+26147G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156370824
chr5:156370852 G
G
A
A
98 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(95): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
98 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(95): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+26175G>A
c.192+26175G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156370852
chr5:156371008 C
C
T
T
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+26331C>T
c.192+26331C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156371008
chr5:156371205 C
C
A
A
13 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
13 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(10): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+26528C>A
c.192+26528C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156371205
chr5:156371401 A
A
G
G
8 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
8 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(5): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.192+26724A>G
c.192+26724A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156371401
chr5:156371513 C
C
T
T
1 a0001c0002t0061g0103
a0001c0002t0061g0103
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.192+26836C>T
c.192+26836C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156371513
chr5:156371654 C
C
T
T
4 a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0022g0064
others(1): Show 
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0022g0064
a0001c0001t0042g0065
4 HG02723.hp2
HG02922.hp2
HG02970.hp1
others(1): Show 
HG02723.hp2
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.192+26977C>T
c.192+26977C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156371654
chr5:156371799 C
C
T
T
10 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
others(7): Show 
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0053g0085
10 HG01243.hp2
HG02258.hp1
HG02717.hp1
others(7): Show 
HG01243.hp2
HG02258.hp1
HG02717.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
HG03471.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.192+27122C>T
c.192+27122C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156371799
chr5:156371900 A
A
T
T
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.192+27223A>T
c.192+27223A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156371900
chr5:156371953 A
A
G
G
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.192+27276A>G
c.192+27276A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156371953
chr5:156371956 G
G
A
A
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+27279G>A
c.192+27279G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156371956
chr5:156371959 C
C
T
T
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.192+27282C>T
c.192+27282C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156371959
chr5:156372005 G
G
A
A
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+27328G>A
c.192+27328G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156372005
chr5:156372260 G
G
A
A
1 a0001c0001t0001g0116
a0001c0001t0001g0116
1 HG02055.hp2
HG02055.hp2
intron_variant MODIFIER c.192+27583G>A
c.192+27583G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156372260
chr5:156372456 G
G
A
A
84 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(81): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
84 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(81): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+27779G>A
c.192+27779G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156372456
chr5:156372512 T
T
C
C
83 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(80): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+27835T>C
c.192+27835T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156372512
chr5:156372559 C
C
T
T
1 a0001c0002t0002g0087
a0001c0002t0002g0087
1 NA19057.hp1
NA19057.hp1
intron_variant MODIFIER c.192+27882C>T
c.192+27882C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156372559
chr5:156372710 C
C
G
G
8 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
8 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(5): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.192+28033C>G
c.192+28033C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156372710
chr5:156372721 C
C
G
G
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.192+28044C>G
c.192+28044C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156372721
chr5:156372732 T
T
C
C
2 a0001c0002t0050g0072
a0001c0002t0060g0074
a0001c0002t0050g0072
a0001c0002t0060g0074
2 HG02055.hp1
HG02965.hp1
HG02055.hp1
HG02965.hp1
intron_variant MODIFIER c.192+28055T>C
c.192+28055T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156372732
chr5:156372865 ATATGGGT
others(7): Show 
ATATGGGTTTTGTAT
A
A
6 a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0039g0004
others(3): Show 
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0048g0053
a0002c0003t0003g0140
6 HG00639.hp2
HG01109.hp2
HG02559.hp1
others(3): Show 
HG00639.hp2
HG01109.hp2
HG02559.hp1
HG02622.hp2
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.192+28190_192+2820
others(18): Show 
c.192+28190_192+28203delATGGGTTTTGTATT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156372865
chr5:156372902 G
G
GTGACAAT
others(4): Show 
GTGACAATATAT
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.192+28226_192+2822
others(15): Show 
c.192+28226_192+28227insGACAATATATT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156372902
chr5:156372924 T
T
TC
TC
8 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
8 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(5): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.192+28247_192+2824
others(5): Show 
c.192+28247_192+28248insC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156372924
chr5:156372926 C
C
CCTAGACA
others(18): Show 
CCTAGACATGTGTTTGCCTTTGTGTT
8 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
8 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(5): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.192+28249_192+2825
others(29): Show 
c.192+28249_192+28250insCTAGACATGTGTTTGCCTTTGTGTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156372926
chr5:156372958 C
C
A
A
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+28281C>A
c.192+28281C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156372958
chr5:156373095 A
A
C
C
1 a0001c0002t0028g0034
a0001c0002t0028g0034
1 HG02717.hp1
HG02717.hp1
intron_variant MODIFIER c.192+28418A>C
c.192+28418A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156373095
chr5:156373097 A
A
G
G
3 a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0023g0071
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0023g0071
3 HG01981.hp2
NA18964.hp1
NA19090.hp2
HG01981.hp2
NA18964.hp1
NA19090.hp2
intron_variant MODIFIER c.192+28420A>G
c.192+28420A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156373097
chr5:156373148 C
C
T
T
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+28471C>T
c.192+28471C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156373148
chr5:156373243 A
A
G
G
20 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(17): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
20 HG01081.hp1
HG01261.hp2
HG01516.hp2
others(17): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02056.hp1
HG02129.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02897.hp2
HG02922.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA19030.hp1
NA20805.hp1
intron_variant MODIFIER c.192+28566A>G
c.192+28566A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156373243
chr5:156373451 A
A
T
T
3 a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0023g0071
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0023g0071
3 HG01981.hp2
NA18964.hp1
NA19090.hp2
HG01981.hp2
NA18964.hp1
NA19090.hp2
intron_variant MODIFIER c.192+28774A>T
c.192+28774A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156373451
chr5:156373619 C
C
T
T
1 a0001c0002t0024g0100
a0001c0002t0024g0100
1 HG01258.hp1
HG01258.hp1
intron_variant MODIFIER c.192+28942C>T
c.192+28942C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156373619
chr5:156373621 A
A
G
G
1 a0001c0001t0032g0020
a0001c0001t0032g0020
1 HG02056.hp1
HG02056.hp1
intron_variant MODIFIER c.192+28944A>G
c.192+28944A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156373621
chr5:156373684 A
A
T
T
121 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(118): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
121 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(118): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+29007A>T
c.192+29007A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156373684
chr5:156373883 G
G
A
A
18 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(15): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
18 HG01081.hp1
HG01261.hp2
HG01516.hp2
others(15): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02897.hp2
HG02922.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA20805.hp1
intron_variant MODIFIER c.192+29206G>A
c.192+29206G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156373883
chr5:156374068 G
G
A
A
3 a0001c0001t0001g0068
a0001c0001t0039g0004
a0001c0001t0047g0003
a0001c0001t0001g0068
a0001c0001t0039g0004
a0001c0001t0047g0003
3 HG01109.hp2
HG04115.hp1
NA20129.hp1
HG01109.hp2
HG04115.hp1
NA20129.hp1
intron_variant MODIFIER c.192+29391G>A
c.192+29391G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156374068
chr5:156374149 C
C
CA
CA
9 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0039g0004
9 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(6): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
HG04115.hp1
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+29486dupA
c.192+29486dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156374149
chr5:156374149 CA
CA
C
C
70 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(67): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
70 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(67): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01081.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.192+29486delA
c.192+29486delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156374149
chr5:156374207 C
C
G
G
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.192+29530C>G
c.192+29530C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156374207
chr5:156374262 C
C
A
A
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+29585C>A
c.192+29585C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156374262
chr5:156374358 C
C
A
A
13 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
13 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(10): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+29681C>A
c.192+29681C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156374358
chr5:156374643 C
C
A
A
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+29966C>A
c.192+29966C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156374643
chr5:156374662 C
C
CT
CT
107 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(104): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
107 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(104): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+30002dupT
c.192+30002dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156374662
chr5:156374748 G
G
A
A
18 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(15): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
18 HG01081.hp1
HG01261.hp2
HG01516.hp2
others(15): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02897.hp2
HG02922.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA20805.hp1
intron_variant MODIFIER c.192+30071G>A
c.192+30071G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156374748
chr5:156374810 A
A
G
G
30 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0116
others(27): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0043g0139
a0001c0001t0049g0149
a0001c0006t0018g0145
30 HG01070.hp2
HG01169.hp1
HG01243.hp1
others(27): Show 
HG01070.hp2
HG01169.hp1
HG01243.hp1
HG02055.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+30133A>G
c.192+30133A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156374810
chr5:156374812 C
C
T
T
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.192+30135C>T
c.192+30135C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156374812
chr5:156374819 A
A
G
G
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+30142A>G
c.192+30142A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156374819
chr5:156374959 C
C
CT
CT
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+30284dupT
c.192+30284dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156374959
chr5:156375033 A
A
T
T
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.192+30356A>T
c.192+30356A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375033
chr5:156375048 A
A
C
C
9 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0011g0051
9 HG01256.hp1
HG01258.hp2
HG02071.hp2
others(6): Show 
HG01256.hp1
HG01258.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+30371A>C
c.192+30371A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375048
chr5:156375070 T
T
G
G
83 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(80): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+30393T>G
c.192+30393T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375070
chr5:156375123 T
T
C
C
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+30446T>C
c.192+30446T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375123
chr5:156375150 C
C
T
T
12 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(9): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
12 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(9): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+30473C>T
c.192+30473C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375150
chr5:156375195 T
T
C
C
1 a0001c0002t0004g0104
a0001c0002t0004g0104
1 HG02056.hp2
HG02056.hp2
intron_variant MODIFIER c.192+30518T>C
c.192+30518T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375195
chr5:156375250 G
G
A
A
83 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(80): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+30573G>A
c.192+30573G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375250
chr5:156375271 G
G
T
T
1 a0002c0003t0017g0014
a0002c0003t0017g0014
1 HG04115.hp2
HG04115.hp2
intron_variant MODIFIER c.192+30594G>T
c.192+30594G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375271
chr5:156375353 A
A
G
G
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+30676A>G
c.192+30676A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375353
chr5:156375395 CT
CT
C
C
91 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(88): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
91 HG00558.hp2
HG00639.hp1
HG01071.hp2
others(88): Show 
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+30740delT
c.192+30740delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156375395
chr5:156375395 CTT
CTT
C
C
8 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(5): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0003g0022
a0001c0001t0025g0035
a0001c0002t0002g0062
a0001c0002t0008g0115
8 HG00558.hp1
HG01516.hp1
HG02055.hp2
others(5): Show 
HG00558.hp1
HG01516.hp1
HG02055.hp2
HG02615.hp2
HG02717.hp2
HG02897.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.192+30739_192+3074
others(6): Show 
c.192+30739_192+30740delTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156375395
chr5:156375395 CTTT
CTTT
C
C
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0036g0043
a0001c0001t0037g0042
9 HG02258.hp2
HG02809.hp1
HG02895.hp1
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.192+30738_192+3074
others(7): Show 
c.192+30738_192+30740delTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156375395
chr5:156375417 T
T
A
A
3 a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0048g0053
a0001c0001t0001g0054
a0001c0001t0039g0004
a0001c0001t0048g0053
3 HG00639.hp2
HG02622.hp2
HG04115.hp1
HG00639.hp2
HG02622.hp2
HG04115.hp1
intron_variant MODIFIER c.192+30740T>A
c.192+30740T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375417
chr5:156375417 T
T
TA
TA
8 a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0003g0056
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0047g0003
8 HG01070.hp2
HG01109.hp2
HG01169.hp1
others(5): Show 
HG01070.hp2
HG01109.hp2
HG01169.hp1
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG03225.hp1
NA20129.hp1
intron_variant MODIFIER c.192+30743dupA
c.192+30743dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156375417
chr5:156375608 T
T
A
A
2 a0001c0001t0001g0054
a0001c0001t0048g0053
a0001c0001t0001g0054
a0001c0001t0048g0053
2 HG00639.hp2
HG02622.hp2
HG00639.hp2
HG02622.hp2
intron_variant MODIFIER c.192+30931T>A
c.192+30931T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375608
chr5:156375720 C
C
T
T
1 a0001c0001t0045g0137
a0001c0001t0045g0137
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.192+31043C>T
c.192+31043C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375720
chr5:156375721 A
A
G
G
1 a0001c0001t0001g0116
a0001c0001t0001g0116
1 HG02055.hp2
HG02055.hp2
intron_variant MODIFIER c.192+31044A>G
c.192+31044A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375721
chr5:156375736 T
T
C
C
9 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0011g0051
9 HG01256.hp1
HG01258.hp2
HG02071.hp2
others(6): Show 
HG01256.hp1
HG01258.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+31059T>C
c.192+31059T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375736
chr5:156375842 T
T
A
A
13 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
13 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(10): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+31165T>A
c.192+31165T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375842
chr5:156375998 G
G
T
T
113 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(110): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
113 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(110): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+31321G>T
c.192+31321G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156375998
chr5:156376073 T
T
C
C
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+31396T>C
c.192+31396T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156376073
chr5:156376355 G
G
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0036g0043
a0001c0001t0037g0042
8 HG02258.hp2
HG02809.hp1
HG02895.hp1
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02895.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.192+31678G>A
c.192+31678G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156376355
chr5:156376651 G
G
T
T
95 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(92): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
95 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(92): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+31974G>T
c.192+31974G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156376651
chr5:156376682 C
C
T
T
1 a0001c0002t0004g0114
a0001c0002t0004g0114
1 HG01261.hp1
HG01261.hp1
intron_variant MODIFIER c.192+32005C>T
c.192+32005C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156376682
chr5:156376780 A
A
G
G
9 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0011g0051
9 HG01256.hp1
HG01258.hp2
HG02071.hp2
others(6): Show 
HG01256.hp1
HG01258.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+32103A>G
c.192+32103A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156376780
chr5:156377131 A
A
G
G
132 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
132 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(129): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+32454A>G
c.192+32454A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156377131
chr5:156377261 G
G
A
A
38 a0001c0001t0003g0136
a0001c0002t0002g0069
a0001c0002t0002g0070
others(35): Show 
a0001c0001t0003g0136
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
38 HG00558.hp2
HG00639.hp1
HG01258.hp1
others(35): Show 
HG00558.hp2
HG00639.hp1
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02145.hp2
HG02155.hp1
HG02698.hp1
HG02809.hp2
HG02965.hp1
HG03453.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+32584G>A
c.192+32584G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156377261
chr5:156377349 A
A
C
C
63 a0001c0001t0003g0136
a0001c0002t0002g0061
a0001c0002t0002g0062
others(60): Show 
a0001c0001t0003g0136
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
63 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(60): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+32672A>C
c.192+32672A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156377349
chr5:156377578 G
G
C
C
18 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(15): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
18 HG01081.hp1
HG01261.hp2
HG01516.hp2
others(15): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02897.hp2
HG02922.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA20805.hp1
intron_variant MODIFIER c.192+32901G>C
c.192+32901G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156377578
chr5:156378050 A
A
G
G
2 a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0012g0010
a0001c0001t0027g0011
2 HG01981.hp1
NA19030.hp1
HG01981.hp1
NA19030.hp1
intron_variant MODIFIER c.192+33373A>G
c.192+33373A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156378050
chr5:156378270 C
C
T
T
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.192+33593C>T
c.192+33593C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156378270
chr5:156378350 G
G
C
C
83 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(80): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+33673G>C
c.192+33673G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156378350
chr5:156378493 G
G
C
C
2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
2 HG02055.hp2
HG02717.hp2
HG02055.hp2
HG02717.hp2
intron_variant MODIFIER c.192+33816G>C
c.192+33816G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156378493
chr5:156378497 A
A
G
G
62 a0001c0001t0003g0136
a0001c0002t0002g0061
a0001c0002t0002g0062
others(59): Show 
a0001c0001t0003g0136
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
62 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(59): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+33820A>G
c.192+33820A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156378497
chr5:156378579 T
T
C
C
61 a0001c0001t0003g0136
a0001c0002t0002g0061
a0001c0002t0002g0062
others(58): Show 
a0001c0001t0003g0136
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
61 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(58): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02698.hp1
HG02717.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03704.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+33902T>C
c.192+33902T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156378579
chr5:156378694 T
T
C
C
9 a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0003g0056
others(6): Show 
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
9 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(6): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
intron_variant MODIFIER c.192+34017T>C
c.192+34017T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156378694
chr5:156378871 G
G
A
A
1 a0001c0002t0054g0073
a0001c0002t0054g0073
1 NA18990.hp1
NA18990.hp1
intron_variant MODIFIER c.192+34194G>A
c.192+34194G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156378871
chr5:156378959 C
C
T
T
3 a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0023g0112
a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0023g0112
3 HG01071.hp2
HG03098.hp1
HG03486.hp2
HG01071.hp2
HG03098.hp1
HG03486.hp2
intron_variant MODIFIER c.192+34282C>T
c.192+34282C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156378959
chr5:156379159 G
G
T
T
2 a0001c0001t0001g0150
a0001c0001t0049g0149
a0001c0001t0001g0150
a0001c0001t0049g0149
2 HG03130.hp2
HG03486.hp1
HG03130.hp2
HG03486.hp1
intron_variant MODIFIER c.192+34482G>T
c.192+34482G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156379159
chr5:156379190 G
G
T
T
1 a0001c0001t0001g0045
a0001c0001t0001g0045
1 NA19002.hp2
NA19002.hp2
intron_variant MODIFIER c.192+34513G>T
c.192+34513G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156379190
chr5:156379330 C
C
G
G
1 a0001c0001t0041g0028
a0001c0001t0041g0028
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.192+34653C>G
c.192+34653C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156379330
chr5:156379426 C
C
G
G
2 a0001c0001t0001g0147
a0001c0001t0048g0053
a0001c0001t0001g0147
a0001c0001t0048g0053
2 HG00639.hp2
HG02615.hp2
HG00639.hp2
HG02615.hp2
intron_variant MODIFIER c.192+34749C>G
c.192+34749C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156379426
chr5:156379448 A
A
C
C
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.192+34771A>C
c.192+34771A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156379448
chr5:156379519 T
T
A
A
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+34842T>A
c.192+34842T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156379519
chr5:156379527 T
T
C
C
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.192+34850T>C
c.192+34850T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156379527
chr5:156379750 G
G
A
A
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.192+35073G>A
c.192+35073G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156379750
chr5:156380000 G
G
A
A
9 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(6): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0002t0008g0105
9 HG02083.hp2
HG02155.hp2
NA18966.hp1
others(6): Show 
HG02083.hp2
HG02155.hp2
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.192+35323G>A
c.192+35323G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156380000
chr5:156380057 G
G
A
A
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+35380G>A
c.192+35380G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156380057
chr5:156380134 T
T
G
G
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+35457T>G
c.192+35457T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156380134
chr5:156380184 G
G
T
T
2 a0001c0002t0004g0088
a0001c0002t0004g0114
a0001c0002t0004g0088
a0001c0002t0004g0114
2 HG00639.hp1
HG01261.hp1
HG00639.hp1
HG01261.hp1
intron_variant MODIFIER c.192+35507G>T
c.192+35507G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156380184
chr5:156380246 C
C
G
G
122 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(119): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
122 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(119): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+35569C>G
c.192+35569C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156380246
chr5:156380287 G
G
A
A
1 a0001c0001t0045g0137
a0001c0001t0045g0137
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.192+35610G>A
c.192+35610G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156380287
chr5:156380524 G
G
A
A
1 a0001c0002t0055g0091
a0001c0002t0055g0091
1 HG00558.hp2
HG00558.hp2
intron_variant MODIFIER c.192+35847G>A
c.192+35847G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156380524
chr5:156380548 A
A
G
G
1 a0001c0002t0028g0034
a0001c0002t0028g0034
1 HG02717.hp1
HG02717.hp1
intron_variant MODIFIER c.192+35871A>G
c.192+35871A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156380548
chr5:156380857 A
A
G
G
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.192+36180A>G
c.192+36180A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156380857
chr5:156380858 T
T
C
C
83 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0068
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(80): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+36181T>C
c.192+36181T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156380858
chr5:156380958 C
C
T
T
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+36281C>T
c.192+36281C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156380958
chr5:156381032 C
C
T
T
8 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
8 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(5): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
NA18522.hp2
NA19002.hp2
intron_variant MODIFIER c.192+36355C>T
c.192+36355C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156381032
chr5:156381089 C
C
A
A
1 a0001c0002t0011g0051
a0001c0002t0011g0051
1 HG02071.hp2
HG02071.hp2
intron_variant MODIFIER c.192+36412C>A
c.192+36412C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156381089
chr5:156381108 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.192+36431G>A
c.192+36431G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156381108
chr5:156381112 T
T
C
C
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+36435T>C
c.192+36435T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156381112
chr5:156381226 G
G
T
T
12 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(9): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
12 HG02055.hp2
HG02258.hp2
HG02717.hp2
others(9): Show 
HG02055.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.192+36549G>T
c.192+36549G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156381226
chr5:156381431 T
T
G
G
2 a0001c0002t0010g0005
a0001c0002t0015g0081
a0001c0002t0010g0005
a0001c0002t0015g0081
2 NA18953.hp1
NA19003.hp2
NA18953.hp1
NA19003.hp2
intron_variant MODIFIER c.192+36754T>G
c.192+36754T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156381431
chr5:156381497 TATC
TATC
T
T
12 a0001c0001t0031g0021
a0001c0002t0002g0061
a0001c0002t0002g0093
others(9): Show 
a0001c0001t0031g0021
a0001c0002t0002g0061
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
12 HG01071.hp2
HG01978.hp2
HG02040.hp1
others(9): Show 
HG01071.hp2
HG01978.hp2
HG02040.hp1
HG02129.hp1
HG03098.hp1
HG03486.hp2
NA18953.hp2
NA18959.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
intron_variant MODIFIER c.192+36823_192+3682
others(7): Show 
c.192+36823_192+36825delCAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156381497
chr5:156381591 TA
TA
T
T
129 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
129 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(126): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+36918delA
c.192+36918delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156381591
chr5:156381627 A
A
G
G
125 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
125 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(122): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+36950A>G
c.192+36950A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156381627
chr5:156381833 A
A
C
C
126 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
126 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(123): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+37156A>C
c.192+37156A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156381833
chr5:156381973 T
T
C
C
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.192+37296T>C
c.192+37296T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156381973
chr5:156381987 A
A
T
T
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.192+37310A>T
c.192+37310A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156381987
chr5:156382042 G
G
A
A
17 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(14): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0011g0090
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0056g0096
a0002c0003t0017g0014
17 HG01256.hp1
HG01258.hp1
HG01258.hp2
others(14): Show 
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG02083.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA19002.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+37365G>A
c.192+37365G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156382042
chr5:156382299 T
T
A
A
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+37622T>A
c.192+37622T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156382299
chr5:156382449 C
C
T
T
15 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0001g0150
others(12): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0001g0150
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0053g0085
a0001c0002t0057g0110
a0001c0004t0001g0009
a0001c0004t0017g0007
15 HG01109.hp2
HG01243.hp2
HG02258.hp1
others(12): Show 
HG01109.hp2
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
HG03486.hp1
NA18522.hp1
NA18906.hp2
NA19240.hp1
intron_variant MODIFIER c.192+37772C>T
c.192+37772C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156382449
chr5:156382685 C
C
T
T
1 a0001c0002t0004g0104
a0001c0002t0004g0104
1 HG02056.hp2
HG02056.hp2
intron_variant MODIFIER c.192+38008C>T
c.192+38008C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156382685
chr5:156382725 C
C
G
G
10 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0004c0007t0020g0012
10 HG01081.hp1
HG01261.hp2
HG01516.hp2
others(7): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp2
HG02056.hp1
HG02129.hp2
HG02897.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA20805.hp1
intron_variant MODIFIER c.192+38048C>G
c.192+38048C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156382725
chr5:156382904 G
G
A
A
68 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(65): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
68 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(65): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.192+38227G>A
c.192+38227G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156382904
chr5:156382946 GCATAATT
others(9): Show 
GCATAATTGTTTGCATC
G
G
1 a0001c0001t0003g0013
a0001c0001t0003g0013
1 NA20805.hp1
NA20805.hp1
intron_variant MODIFIER c.192+38271_192+3828
others(20): Show 
c.192+38271_192+38286delATAATTGTTTGCATCC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156382946
chr5:156383157 A
A
G
G
26 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(23): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
26 HG01256.hp1
HG01258.hp1
HG01258.hp2
others(23): Show 
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+38480A>G
c.192+38480A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156383157
chr5:156383395 T
T
C
C
2 a0001c0002t0004g0092
a0001c0002t0055g0091
a0001c0002t0004g0092
a0001c0002t0055g0091
2 HG00558.hp2
NA18964.hp2
HG00558.hp2
NA18964.hp2
intron_variant MODIFIER c.192+38718T>C
c.192+38718T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156383395
chr5:156383423 G
G
T
T
15 a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0087
others(12): Show 
a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0061g0103
a0002c0003t0003g0140
15 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(12): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01261.hp1
HG01516.hp1
HG02056.hp2
HG02559.hp1
HG03239.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19011.hp1
NA19057.hp1
NA19066.hp2
intron_variant MODIFIER c.192+38746G>T
c.192+38746G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156383423
chr5:156383431 T
T
G
G
126 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
126 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(123): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+38754T>G
c.192+38754T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156383431
chr5:156383469 A
A
G
G
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.192+38792A>G
c.192+38792A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156383469
chr5:156383518 G
G
T
T
16 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(13): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0002t0022g0029
a0001c0002t0058g0089
16 HG01981.hp1
HG02055.hp2
HG02145.hp2
others(13): Show 
HG01981.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.192+38841G>T
c.192+38841G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156383518
chr5:156383555 A
A
G
G
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.192+38878A>G
c.192+38878A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156383555
chr5:156383810 C
C
G
G
1 a0001c0001t0045g0137
a0001c0001t0045g0137
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.192+39133C>G
c.192+39133C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156383810
chr5:156383813 A
A
G
G
130 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
130 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(127): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+39136A>G
c.192+39136A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156383813
chr5:156383923 A
A
G
G
23 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(20): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
23 HG01256.hp1
HG01258.hp2
HG02071.hp1
others(20): Show 
HG01256.hp1
HG01258.hp2
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+39246A>G
c.192+39246A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156383923
chr5:156383944 T
T
C
C
66 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(63): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0003c0005t0001g0148
a0004c0007t0020g0012
66 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(63): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.192+39267T>C
c.192+39267T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156383944
chr5:156384040 C
C
G
G
66 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(63): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0003c0005t0001g0148
a0004c0007t0020g0012
66 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(63): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.192+39363C>G
c.192+39363C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156384040
chr5:156384383 T
T
C
C
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+39706T>C
c.192+39706T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156384383
chr5:156384461 G
G
A
A
1 a0001c0001t0001g0146
a0001c0001t0001g0146
1 HG02145.hp1
HG02145.hp1
intron_variant MODIFIER c.192+39784G>A
c.192+39784G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156384461
chr5:156384576 C
C
T
T
1 a0001c0002t0019g0033
a0001c0002t0019g0033
1 NA19240.hp1
NA19240.hp1
intron_variant MODIFIER c.192+39899C>T
c.192+39899C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156384576
chr5:156384596 G
G
A
A
1 a0001c0001t0001g0052
a0001c0001t0001g0052
1 HG02257.hp2
HG02257.hp2
intron_variant MODIFIER c.192+39919G>A
c.192+39919G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156384596
chr5:156384638 G
G
T
T
13 a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0049g0149
others(10): Show 
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0010g0094
a0001c0002t0023g0112
a0001c0002t0052g0111
13 HG01071.hp2
HG01978.hp2
HG02040.hp1
others(10): Show 
HG01071.hp2
HG01978.hp2
HG02040.hp1
HG02129.hp1
HG02698.hp2
HG03098.hp1
HG03130.hp2
HG03453.hp2
HG03486.hp2
NA18953.hp2
NA18959.hp2
NA19010.hp1
NA19010.hp2
intron_variant MODIFIER c.192+39961G>T
c.192+39961G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156384638
chr5:156384660 AG
AG
A
A
38 a0001c0001t0001g0008
a0001c0001t0001g0045
a0001c0001t0001g0050
others(35): Show 
a0001c0001t0001g0008
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0150
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
38 HG01109.hp2
HG01243.hp2
HG01256.hp1
others(35): Show 
HG01109.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19240.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+39984delG
c.192+39984delG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156384660
chr5:156384661 G
G
A
A
87 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(84): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
87 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(84): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.192+39984G>A
c.192+39984G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156384661
chr5:156384668 AT
AT
A
A
17 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0116
others(14): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0002t0022g0029
a0001c0002t0058g0089
17 HG01981.hp1
HG02055.hp2
HG02145.hp2
others(14): Show 
HG01981.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.192+39998delT
c.192+39998delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156384668
chr5:156384927 G
G
A
A
10 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(7): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0038g0044
a0001c0002t0002g0109
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0044g0026
10 HG02071.hp1
HG02083.hp1
HG02257.hp2
others(7): Show 
HG02071.hp1
HG02083.hp1
HG02257.hp2
HG02723.hp1
HG03139.hp2
HG03471.hp2
NA18522.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
intron_variant MODIFIER c.192+40250G>A
c.192+40250G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156384927
chr5:156384980 C
C
T
T
25 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(22): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0010g0094
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0052g0111
25 HG00639.hp2
HG01070.hp2
HG01071.hp2
others(22): Show 
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02129.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03486.hp2
NA18953.hp2
NA18959.hp2
NA19010.hp1
NA19010.hp2
intron_variant MODIFIER c.192+40303C>T
c.192+40303C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156384980
chr5:156385137 T
T
G
G
8 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(5): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0016g0144
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0006t0018g0145
8 HG01243.hp1
HG01981.hp1
HG02145.hp1
others(5): Show 
HG01243.hp1
HG01981.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.192+40460T>G
c.192+40460T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156385137
chr5:156385515 C
C
T
T
1 a0001c0001t0003g0136
a0001c0001t0003g0136
1 HG02698.hp1
HG02698.hp1
intron_variant MODIFIER c.192+40838C>T
c.192+40838C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156385515
chr5:156385524 A
A
G
G
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.192+40847A>G
c.192+40847A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156385524
chr5:156385531 T
T
A
A
1 a0001c0002t0019g0031
a0001c0002t0019g0031
1 HG03041.hp1
HG03041.hp1
intron_variant MODIFIER c.192+40854T>A
c.192+40854T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156385531
chr5:156385586 G
G
C
C
99 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(96): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
99 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(96): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+40909G>C
c.192+40909G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156385586
chr5:156385634 C
C
G
G
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+40957C>G
c.192+40957C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156385634
chr5:156385687 C
C
A
A
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+41010C>A
c.192+41010C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156385687
chr5:156385807 G
G
A
A
13 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
others(10): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
13 HG01109.hp2
HG01243.hp2
HG02258.hp1
others(10): Show 
HG01109.hp2
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.192+41130G>A
c.192+41130G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156385807
chr5:156386022 C
C
T
T
30 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(27): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
30 HG01243.hp1
HG01256.hp1
HG01258.hp2
others(27): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+41345C>T
c.192+41345C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156386022
chr5:156386037 T
T
C
C
11 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0037g0042
a0001c0002t0022g0029
a0001c0002t0058g0089
11 HG01981.hp1
HG02055.hp2
HG02145.hp2
others(8): Show 
HG01981.hp1
HG02055.hp2
HG02145.hp2
HG02717.hp2
HG02895.hp1
HG03139.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.192+41360T>C
c.192+41360T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156386037
chr5:156386122 T
T
G
G
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+41445T>G
c.192+41445T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156386122
chr5:156386167 C
C
T
T
30 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(27): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
30 HG01243.hp1
HG01256.hp1
HG01258.hp2
others(27): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+41490C>T
c.192+41490C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156386167
chr5:156386243 G
G
T
T
30 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(27): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
30 HG01243.hp1
HG01256.hp1
HG01258.hp2
others(27): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+41566G>T
c.192+41566G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156386243
chr5:156386314 T
T
C
C
107 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(104): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
107 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(104): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+41637T>C
c.192+41637T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156386314
chr5:156386435 G
G
C
C
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.192+41758G>C
c.192+41758G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156386435
chr5:156386521 C
C
T
T
22 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(19): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0002c0003t0017g0014
22 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(19): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03471.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+41844C>T
c.192+41844C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156386521
chr5:156386707 C
C
T
T
1 a0001c0002t0052g0111
a0001c0002t0052g0111
1 HG03453.hp2
HG03453.hp2
intron_variant MODIFIER c.192+42030C>T
c.192+42030C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156386707
chr5:156386802 T
T
C
C
1 a0001c0001t0003g0136
a0001c0001t0003g0136
1 HG02698.hp1
HG02698.hp1
intron_variant MODIFIER c.192+42125T>C
c.192+42125T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156386802
chr5:156386886 G
G
A
A
1 a0001c0002t0053g0085
a0001c0002t0053g0085
1 HG03453.hp1
HG03453.hp1
intron_variant MODIFIER c.192+42209G>A
c.192+42209G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156386886
chr5:156386993 A
A
G
G
107 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(104): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
107 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(104): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+42316A>G
c.192+42316A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156386993
chr5:156387744 T
T
C
C
107 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(104): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
107 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(104): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+43067T>C
c.192+43067T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156387744
chr5:156387756 A
A
G
G
1 a0001c0002t0023g0112
a0001c0002t0023g0112
1 HG03098.hp1
HG03098.hp1
intron_variant MODIFIER c.192+43079A>G
c.192+43079A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156387756
chr5:156387823 T
T
C
C
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.192+43146T>C
c.192+43146T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156387823
chr5:156387857 C
C
G
G
7 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0043g0139
7 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(4): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.192+43180C>G
c.192+43180C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156387857
chr5:156387865 G
G
A
A
107 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(104): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
107 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(104): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+43188G>A
c.192+43188G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156387865
chr5:156387953 T
T
C
C
107 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(104): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
107 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(104): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+43276T>C
c.192+43276T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156387953
chr5:156388441 C
C
T
T
71 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(68): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0003c0005t0001g0148
a0004c0007t0020g0012
71 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(68): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02129.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
intron_variant MODIFIER c.192+43764C>T
c.192+43764C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156388441
chr5:156388583 T
T
G
G
15 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
others(12): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0048g0053
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
15 HG00639.hp2
HG01109.hp2
HG01243.hp2
others(12): Show 
HG00639.hp2
HG01109.hp2
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.192+43906T>G
c.192+43906T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156388583
chr5:156388624 A
A
T
T
71 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(68): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0003c0005t0001g0148
a0004c0007t0020g0012
71 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(68): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02129.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
intron_variant MODIFIER c.192+43947A>T
c.192+43947A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156388624
chr5:156388909 G
G
T
T
105 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(102): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
105 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(102): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+44232G>T
c.192+44232G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156388909
chr5:156388921 A
A
C
C
11 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0037g0042
a0001c0002t0022g0029
a0001c0002t0058g0089
11 HG01981.hp1
HG02055.hp2
HG02145.hp2
others(8): Show 
HG01981.hp1
HG02055.hp2
HG02145.hp2
HG02717.hp2
HG02895.hp1
HG03139.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.192+44244A>C
c.192+44244A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156388921
chr5:156388962 T
T
G
G
35 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
35 HG01243.hp1
HG01256.hp1
HG01258.hp1
others(32): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+44285T>G
c.192+44285T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156388962
chr5:156389010 T
T
C
C
13 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
others(10): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
13 HG01109.hp2
HG01243.hp2
HG02258.hp1
others(10): Show 
HG01109.hp2
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.192+44333T>C
c.192+44333T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156389010
chr5:156389035 G
G
A
A
3 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0002t0058g0089
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0002t0058g0089
3 HG02055.hp2
HG02145.hp2
HG02717.hp2
HG02055.hp2
HG02145.hp2
HG02717.hp2
intron_variant MODIFIER c.192+44358G>A
c.192+44358G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156389035
chr5:156389097 G
G
C
C
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.192+44420G>C
c.192+44420G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156389097
chr5:156389162 C
C
A
A
35 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
35 HG01243.hp1
HG01256.hp1
HG01258.hp1
others(32): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+44485C>A
c.192+44485C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156389162
chr5:156389616 T
T
C
C
2 a0001c0002t0002g0077
a0001c0002t0059g0002
a0001c0002t0002g0077
a0001c0002t0059g0002
2 NA18959.hp1
NA18966.hp2
NA18959.hp1
NA18966.hp2
intron_variant MODIFIER c.192+44939T>C
c.192+44939T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156389616
chr5:156389715 G
G
T
T
35 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
35 HG01243.hp1
HG01256.hp1
HG01258.hp1
others(32): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+45038G>T
c.192+45038G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156389715
chr5:156389735 A
A
G
G
105 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(102): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
105 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(102): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+45058A>G
c.192+45058A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156389735
chr5:156389780 T
T
G
G
8 a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0093
others(5): Show 
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0010g0094
8 HG01978.hp2
HG02040.hp1
HG02129.hp1
others(5): Show 
HG01978.hp2
HG02040.hp1
HG02129.hp1
HG02698.hp2
NA18953.hp2
NA18959.hp2
NA19010.hp1
NA19010.hp2
intron_variant MODIFIER c.192+45103T>G
c.192+45103T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156389780
chr5:156389903 T
T
TAC
TAC
67 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0039g0004
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0003c0005t0001g0148
a0004c0007t0020g0012
67 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(64): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
intron_variant MODIFIER c.192+45242_192+4524
others(6): Show 
c.192+45242_192+45243dupCA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156389903
chr5:156389903 T
T
TACAC
TACAC
29 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(26): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0002c0003t0017g0014
29 HG01256.hp1
HG01258.hp1
HG01258.hp2
others(26): Show 
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+45240_192+4524
others(8): Show 
c.192+45240_192+45243dupCACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156389903
chr5:156389953 C
C
T
T
35 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
35 HG01243.hp1
HG01256.hp1
HG01258.hp1
others(32): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+45276C>T
c.192+45276C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156389953
chr5:156390214 T
T
TA
TA
102 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(99): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
102 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(99): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+45547dupA
c.192+45547dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156390214
chr5:156390501 C
C
T
T
10 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(7): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0029g0024
a0001c0001t0043g0139
a0001c0002t0008g0076
a0001c0002t0010g0094
10 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(7): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
NA19010.hp1
NA19010.hp2
intron_variant MODIFIER c.192+45824C>T
c.192+45824C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156390501
chr5:156390529 G
G
A
A
1 a0001c0001t0001g0116
a0001c0001t0001g0116
1 HG02055.hp2
HG02055.hp2
intron_variant MODIFIER c.192+45852G>A
c.192+45852G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156390529
chr5:156390590 T
T
C
C
71 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(68): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
a0004c0007t0020g0012
71 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(68): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.192+45913T>C
c.192+45913T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156390590
chr5:156390669 T
T
G
G
104 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(101): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
104 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(101): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+45992T>G
c.192+45992T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156390669
chr5:156390764 A
A
T
T
33 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(30): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
33 HG01243.hp1
HG01256.hp1
HG01258.hp1
others(30): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+46087A>T
c.192+46087A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156390764
chr5:156390784 G
G
T
T
1 a0001c0001t0007g0138
a0001c0001t0007g0138
1 NA19066.hp1
NA19066.hp1
intron_variant MODIFIER c.192+46107G>T
c.192+46107G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156390784
chr5:156390815 G
G
A
A
1 a0001c0002t0004g0114
a0001c0002t0004g0114
1 HG01261.hp1
HG01261.hp1
intron_variant MODIFIER c.192+46138G>A
c.192+46138G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156390815
chr5:156390978 G
G
A
A
2 a0001c0002t0008g0006
a0001c0002t0011g0090
a0001c0002t0008g0006
a0001c0002t0011g0090
2 HG02040.hp1
homoSapiens_chm13v2.hp1
HG02040.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+46301G>A
c.192+46301G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156390978
chr5:156391068 C
C
T
T
23 a0001c0001t0001g0008
a0001c0001t0001g0058
a0001c0001t0001g0068
others(20): Show 
a0001c0001t0001g0008
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0029g0024
a0001c0001t0043g0139
a0001c0001t0048g0053
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
23 HG00639.hp2
HG01070.hp2
HG01109.hp2
others(20): Show 
HG00639.hp2
HG01070.hp2
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG02258.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03453.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.192+46391C>T
c.192+46391C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156391068
chr5:156391078 C
C
T
T
117 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(114): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
117 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(114): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+46401C>T
c.192+46401C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156391078
chr5:156391180 A
A
G
G
23 a0001c0001t0001g0008
a0001c0001t0001g0058
a0001c0001t0001g0068
others(20): Show 
a0001c0001t0001g0008
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0029g0024
a0001c0001t0043g0139
a0001c0001t0048g0053
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
23 HG00639.hp2
HG01070.hp2
HG01109.hp2
others(20): Show 
HG00639.hp2
HG01070.hp2
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG02258.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03453.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.192+46503A>G
c.192+46503A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156391180
chr5:156391375 A
A
G
G
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.192+46698A>G
c.192+46698A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156391375
chr5:156391438 T
T
C
C
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02723.hp2
HG02809.hp1
others(6): Show 
HG02258.hp2
HG02723.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+46761T>C
c.192+46761T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156391438
chr5:156391517 A
A
G
G
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(115): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+46840A>G
c.192+46840A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156391517
chr5:156391601 A
A
C
C
1 a0001c0002t0023g0071
a0001c0002t0023g0071
1 HG01981.hp2
HG01981.hp2
intron_variant MODIFIER c.192+46924A>C
c.192+46924A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156391601
chr5:156391692 G
G
A
A
35 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(32): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0060g0074
a0001c0002t0061g0103
a0003c0005t0001g0148
a0004c0007t0020g0012
35 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(32): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01081.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02129.hp2
HG02615.hp2
HG02622.hp2
HG02735.hp1
HG02897.hp2
HG02965.hp1
HG03239.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20805.hp1
intron_variant MODIFIER c.192+47015G>A
c.192+47015G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156391692
chr5:156391847 T
T
C
C
30 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(27): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0002c0003t0017g0014
30 HG01256.hp1
HG01258.hp1
HG01258.hp2
others(27): Show 
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+47170T>C
c.192+47170T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156391847
chr5:156391870 G
G
A
A
36 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(33): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
36 HG01243.hp1
HG01256.hp1
HG01258.hp1
others(33): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+47193G>A
c.192+47193G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156391870
chr5:156392172 T
T
A
A
68 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
a0004c0007t0020g0012
68 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(65): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02129.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
intron_variant MODIFIER c.192+47495T>A
c.192+47495T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156392172
chr5:156392178 G
G
A
A
1 a0001c0002t0004g0104
a0001c0002t0004g0104
1 HG02056.hp2
HG02056.hp2
intron_variant MODIFIER c.192+47501G>A
c.192+47501G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156392178
chr5:156392268 G
G
A
A
36 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(33): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
36 HG01243.hp1
HG01256.hp1
HG01258.hp1
others(33): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+47591G>A
c.192+47591G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156392268
chr5:156392721 G
G
A
A
104 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(101): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
104 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(101): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+48044G>A
c.192+48044G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156392721
chr5:156392896 C
C
T
T
2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
2 HG02055.hp2
HG02717.hp2
HG02055.hp2
HG02717.hp2
intron_variant MODIFIER c.192+48219C>T
c.192+48219C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156392896
chr5:156392897 A
A
G
G
130 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
130 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(127): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+48220A>G
c.192+48220A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156392897
chr5:156392939 G
G
A
A
1 a0001c0002t0052g0111
a0001c0002t0052g0111
1 HG03453.hp2
HG03453.hp2
intron_variant MODIFIER c.192+48262G>A
c.192+48262G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156392939
chr5:156392953 A
A
C
C
11 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(8): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0003c0005t0001g0148
a0004c0007t0020g0012
11 HG01081.hp1
HG01261.hp2
HG01516.hp2
others(8): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp2
HG02056.hp1
HG02129.hp2
HG02735.hp1
HG02897.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA20805.hp1
intron_variant MODIFIER c.192+48276A>C
c.192+48276A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156392953
chr5:156393037 C
C
A
A
11 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0037g0042
a0001c0002t0022g0029
a0001c0002t0058g0089
11 HG01981.hp1
HG02055.hp2
HG02145.hp2
others(8): Show 
HG01981.hp1
HG02055.hp2
HG02145.hp2
HG02717.hp2
HG02895.hp1
HG03139.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.192+48360C>A
c.192+48360C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393037
chr5:156393097 G
G
A
A
36 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(33): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0060g0074
a0001c0002t0061g0103
a0003c0005t0001g0148
a0004c0007t0020g0012
36 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(33): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01081.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02129.hp2
HG02615.hp2
HG02622.hp2
HG02735.hp1
HG02897.hp2
HG02965.hp1
HG03239.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20805.hp1
intron_variant MODIFIER c.192+48420G>A
c.192+48420G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393097
chr5:156393126 C
C
T
T
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.192+48449C>T
c.192+48449C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393126
chr5:156393162 G
G
A
A
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.192+48485G>A
c.192+48485G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393162
chr5:156393187 G
G
C
C
1 a0001c0001t0034g0118
a0001c0001t0034g0118
1 HG01256.hp2
HG01256.hp2
intron_variant MODIFIER c.192+48510G>C
c.192+48510G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393187
chr5:156393262 G
G
A
A
33 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(30): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
33 HG01243.hp1
HG01256.hp1
HG01258.hp2
others(30): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+48585G>A
c.192+48585G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393262
chr5:156393458 TAATA
TAATA
T
T
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.192+48786_192+4878
others(8): Show 
c.192+48786_192+48789delAATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156393458
chr5:156393537 G
G
A
A
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
34 HG01243.hp1
HG01256.hp1
HG01258.hp2
others(31): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+48860G>A
c.192+48860G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393537
chr5:156393572 G
G
T
T
28 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(25): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0002c0003t0017g0014
28 HG01256.hp1
HG01258.hp2
HG01891.hp2
others(25): Show 
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+48895G>T
c.192+48895G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393572
chr5:156393686 A
A
G
G
36 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(33): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
36 HG01243.hp1
HG01256.hp1
HG01258.hp1
others(33): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+49009A>G
c.192+49009A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393686
chr5:156393706 C
C
A
A
104 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(101): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
104 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(101): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+49029C>A
c.192+49029C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393706
chr5:156393816 C
C
A
A
11 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0037g0042
a0001c0002t0022g0029
a0001c0002t0058g0089
11 HG01981.hp1
HG02055.hp2
HG02145.hp2
others(8): Show 
HG01981.hp1
HG02055.hp2
HG02145.hp2
HG02717.hp2
HG02895.hp1
HG03139.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.192+49139C>A
c.192+49139C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393816
chr5:156393909 G
G
A
A
1 a0001c0001t0045g0137
a0001c0001t0045g0137
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.192+49232G>A
c.192+49232G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393909
chr5:156393931 T
T
G
G
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.192+49254T>G
c.192+49254T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393931
chr5:156393958 G
G
A
A
2 a0001c0002t0002g0061
a0001c0002t0023g0112
a0001c0002t0002g0061
a0001c0002t0023g0112
2 HG03098.hp1
HG03486.hp2
HG03098.hp1
HG03486.hp2
intron_variant MODIFIER c.192+49281G>A
c.192+49281G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156393958
chr5:156394124 C
C
G
G
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02723.hp2
HG02809.hp1
others(6): Show 
HG02258.hp2
HG02723.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+49447C>G
c.192+49447C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156394124
chr5:156394315 G
G
T
T
11 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0037g0042
a0001c0002t0022g0029
a0001c0002t0058g0089
11 HG01981.hp1
HG02055.hp2
HG02145.hp2
others(8): Show 
HG01981.hp1
HG02055.hp2
HG02145.hp2
HG02717.hp2
HG02895.hp1
HG03139.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.192+49638G>T
c.192+49638G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156394315
chr5:156394345 C
C
T
T
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.192+49668C>T
c.192+49668C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156394345
chr5:156394742 T
T
C
C
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
34 HG01243.hp1
HG01256.hp1
HG01258.hp2
others(31): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+50065T>C
c.192+50065T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156394742
chr5:156395290 A
A
G
G
130 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
130 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(127): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+50613A>G
c.192+50613A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156395290
chr5:156395499 A
A
G
G
7 a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0043g0139
7 HG01070.hp2
HG01169.hp1
HG02559.hp2
others(4): Show 
HG01070.hp2
HG01169.hp1
HG02559.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.192+50822A>G
c.192+50822A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156395499
chr5:156395579 C
C
T
T
31 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(28): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
31 HG01243.hp1
HG01256.hp1
HG01258.hp2
others(28): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+50902C>T
c.192+50902C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156395579
chr5:156395647 A
A
G
G
1 a0001c0002t0011g0090
a0001c0002t0011g0090
1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+50970A>G
c.192+50970A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156395647
chr5:156395666 C
C
T
T
1 a0001c0002t0008g0101
a0001c0002t0008g0101
1 NA18959.hp2
NA18959.hp2
intron_variant MODIFIER c.192+50989C>T
c.192+50989C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156395666
chr5:156395978 A
A
G
G
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+51301A>G
c.192+51301A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156395978
chr5:156396343 G
G
A
A
1 a0001c0006t0018g0145
a0001c0006t0018g0145
1 HG02257.hp1
HG02257.hp1
intron_variant MODIFIER c.192+51666G>A
c.192+51666G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156396343
chr5:156396522 T
T
G
G
1 a0001c0001t0003g0136
a0001c0001t0003g0136
1 HG02698.hp1
HG02698.hp1
intron_variant MODIFIER c.192+51845T>G
c.192+51845T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156396522
chr5:156396527 C
C
A
A
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.192+51850C>A
c.192+51850C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156396527
chr5:156396596 C
C
T
T
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.192+51919C>T
c.192+51919C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156396596
chr5:156396679 G
G
A
A
3 a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0040g0131
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0040g0131
3 HG01081.hp2
HG01109.hp1
HG03239.hp2
HG01081.hp2
HG01109.hp1
HG03239.hp2
intron_variant MODIFIER c.192+52002G>A
c.192+52002G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156396679
chr5:156396679 G
G
T
T
1 a0001c0001t0001g0054
a0001c0001t0001g0054
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.192+52002G>T
c.192+52002G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156396679
chr5:156396779 C
C
A
A
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.192+52102C>A
c.192+52102C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156396779
chr5:156396798 C
C
A
A
14 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
others(11): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
a0001c0001t0048g0053
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
14 HG00639.hp2
HG01109.hp2
HG01243.hp2
others(11): Show 
HG00639.hp2
HG01109.hp2
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.192+52121C>A
c.192+52121C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156396798
chr5:156396858 T
T
C
C
130 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
130 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(127): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+52181T>C
c.192+52181T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156396858
chr5:156397017 A
A
G
G
130 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
130 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(127): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+52340A>G
c.192+52340A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156397017
chr5:156397080 G
G
T
T
1 a0001c0001t0001g0058
a0001c0001t0001g0058
1 HG02559.hp2
HG02559.hp2
intron_variant MODIFIER c.192+52403G>T
c.192+52403G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156397080
chr5:156397105 C
C
T
T
2 a0001c0002t0002g0087
a0001c0002t0061g0103
a0001c0002t0002g0087
a0001c0002t0061g0103
2 NA19011.hp1
NA19057.hp1
NA19011.hp1
NA19057.hp1
intron_variant MODIFIER c.192+52428C>T
c.192+52428C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156397105
chr5:156397151 G
G
T
T
25 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(22): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0002c0003t0017g0014
25 HG01256.hp1
HG01258.hp2
HG01891.hp2
others(22): Show 
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03453.hp2
HG03471.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+52474G>T
c.192+52474G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156397151
chr5:156397250 G
G
A
A
1 a0001c0002t0054g0073
a0001c0002t0054g0073
1 NA18990.hp1
NA18990.hp1
intron_variant MODIFIER c.192+52573G>A
c.192+52573G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156397250
chr5:156397280 A
A
G
G
1 a0001c0002t0002g0070
a0001c0002t0002g0070
1 NA18985.hp1
NA18985.hp1
intron_variant MODIFIER c.192+52603A>G
c.192+52603A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156397280
chr5:156397518 A
A
G
G
2 a0001c0002t0002g0087
a0001c0002t0061g0103
a0001c0002t0002g0087
a0001c0002t0061g0103
2 NA19011.hp1
NA19057.hp1
NA19011.hp1
NA19057.hp1
intron_variant MODIFIER c.192+52841A>G
c.192+52841A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156397518
chr5:156397589 C
C
T
T
31 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(28): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
31 HG01243.hp1
HG01256.hp1
HG01258.hp2
others(28): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+52912C>T
c.192+52912C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156397589
chr5:156397689 T
T
C
C
1 a0001c0002t0051g0099
a0001c0002t0051g0099
1 NA19066.hp2
NA19066.hp2
intron_variant MODIFIER c.192+53012T>C
c.192+53012T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156397689
chr5:156397763 C
C
A
A
2 a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0009g0049
a0001c0001t0014g0048
2 HG02723.hp1
HG03139.hp2
HG02723.hp1
HG03139.hp2
intron_variant MODIFIER c.192+53086C>A
c.192+53086C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156397763
chr5:156397764 T
T
C
C
107 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(104): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
107 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(104): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+53087T>C
c.192+53087T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156397764
chr5:156398150 C
C
T
T
17 a0001c0001t0001g0054
a0001c0002t0002g0062
a0001c0002t0002g0070
others(14): Show 
a0001c0001t0001g0054
a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0061g0103
17 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(14): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01261.hp1
HG01516.hp1
HG02056.hp2
HG02622.hp2
HG03239.hp1
HG03490.hp2
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.192+53473C>T
c.192+53473C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156398150
chr5:156398163 T
T
C
C
1 a0001c0001t0001g0122
a0001c0001t0001g0122
1 HG02083.hp2
HG02083.hp2
intron_variant MODIFIER c.192+53486T>C
c.192+53486T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156398163
chr5:156398290 C
C
T
T
1 a0001c0001t0031g0021
a0001c0001t0031g0021
1 HG01978.hp2
HG01978.hp2
intron_variant MODIFIER c.192+53613C>T
c.192+53613C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156398290
chr5:156398480 G
G
A
A
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.192+53803G>A
c.192+53803G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156398480
chr5:156398934 G
G
C
C
38 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(35): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0003c0005t0001g0148
a0004c0007t0020g0012
38 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(35): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01081.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02735.hp1
HG02897.hp2
HG02965.hp1
HG03239.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20805.hp1
intron_variant MODIFIER c.192+54257G>C
c.192+54257G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156398934
chr5:156398987 C
C
T
T
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.192+54310C>T
c.192+54310C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156398987
chr5:156399105 A
A
C
C
109 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(106): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
109 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(106): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+54428A>C
c.192+54428A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156399105
chr5:156399136 C
C
G
G
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.192+54459C>G
c.192+54459C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156399136
chr5:156399179 A
A
C
C
37 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(34): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
37 HG01243.hp1
HG01256.hp1
HG01258.hp1
others(34): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+54502A>C
c.192+54502A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156399179
chr5:156399212 G
G
A
A
1 a0001c0002t0008g0115
a0001c0002t0008g0115
1 HG01516.hp1
HG01516.hp1
intron_variant MODIFIER c.192+54535G>A
c.192+54535G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156399212
chr5:156399245 A
A
G
G
1 a0001c0002t0024g0063
a0001c0002t0024g0063
1 NA19003.hp1
NA19003.hp1
intron_variant MODIFIER c.192+54568A>G
c.192+54568A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156399245
chr5:156399389 G
G
A
A
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(115): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+54712G>A
c.192+54712G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156399389
chr5:156399530 C
C
G
G
56 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
others(53): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0116
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
56 HG01071.hp2
HG01243.hp1
HG01256.hp1
others(53): Show 
HG01071.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+54853C>G
c.192+54853C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156399530
chr5:156399762 G
G
A
A
6 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(3): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
6 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(3): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+55085G>A
c.192+55085G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156399762
chr5:156399837 T
T
A
A
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.192+55160T>A
c.192+55160T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156399837
chr5:156399902 A
A
G
G
1 a0001c0001t0031g0021
a0001c0001t0031g0021
1 HG01978.hp2
HG01978.hp2
intron_variant MODIFIER c.192+55225A>G
c.192+55225A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156399902
chr5:156399959 T
T
C
C
13 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
others(10): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
13 HG01109.hp2
HG01243.hp2
HG02258.hp1
others(10): Show 
HG01109.hp2
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.192+55282T>C
c.192+55282T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156399959
chr5:156400344 T
T
C
C
1 a0001c0001t0001g0025
a0001c0001t0001g0025
1 HG03139.hp1
HG03139.hp1
intron_variant MODIFIER c.192+55667T>C
c.192+55667T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156400344
chr5:156400460 A
A
G
G
116 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(113): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
116 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(113): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+55783A>G
c.192+55783A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156400460
chr5:156400544 G
G
C
C
37 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(34): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
37 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(34): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+55867G>C
c.192+55867G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156400544
chr5:156400984 G
G
A
A
1 a0001c0002t0055g0091
a0001c0002t0055g0091
1 HG00558.hp2
HG00558.hp2
intron_variant MODIFIER c.192+56307G>A
c.192+56307G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156400984
chr5:156401029 G
G
T
T
116 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(113): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
116 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(113): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+56352G>T
c.192+56352G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156401029
chr5:156401237 A
A
G
G
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+56560A>G
c.192+56560A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156401237
chr5:156401279 G
G
A
A
37 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(34): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
37 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(34): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+56602G>A
c.192+56602G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156401279
chr5:156401441 A
A
T
T
78 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(75): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0004c0007t0020g0012
78 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(75): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.192+56764A>T
c.192+56764A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156401441
chr5:156401510 G
G
A
A
5 a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
others(2): Show 
a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
5 HG01109.hp2
HG02970.hp2
HG03041.hp1
others(2): Show 
HG01109.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
NA19240.hp1
intron_variant MODIFIER c.192+56833G>A
c.192+56833G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156401510
chr5:156401511 C
C
A
A
5 a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
others(2): Show 
a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
5 HG01109.hp2
HG02970.hp2
HG03041.hp1
others(2): Show 
HG01109.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
NA19240.hp1
intron_variant MODIFIER c.192+56834C>A
c.192+56834C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156401511
chr5:156401646 T
T
G
G
13 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
others(10): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
13 HG01109.hp2
HG01243.hp2
HG02258.hp1
others(10): Show 
HG01109.hp2
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.192+56969T>G
c.192+56969T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156401646
chr5:156401761 TA
TA
T
T
38 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(35): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
38 HG00558.hp2
HG00639.hp1
HG01081.hp1
others(35): Show 
HG00558.hp2
HG00639.hp1
HG01081.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02615.hp2
HG02622.hp2
HG02897.hp2
HG02965.hp1
HG03130.hp2
HG03239.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.192+57092delA
c.192+57092delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156401761
chr5:156401791 T
T
C
C
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+57114T>C
c.192+57114T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156401791
chr5:156401792 T
T
C
C
2 a0001c0002t0010g0005
a0001c0002t0015g0081
a0001c0002t0010g0005
a0001c0002t0015g0081
2 NA18953.hp1
NA19003.hp2
NA18953.hp1
NA19003.hp2
intron_variant MODIFIER c.192+57115T>C
c.192+57115T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156401792
chr5:156401839 A
A
G
G
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.192+57162A>G
c.192+57162A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156401839
chr5:156401926 AT
AT
A
A
7 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
7 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(4): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+57250delT
c.192+57250delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156401926
chr5:156402087 T
T
C
C
1 a0001c0001t0001g0054
a0001c0001t0001g0054
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.192+57410T>C
c.192+57410T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156402087
chr5:156402219 A
A
G
G
3 a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0037g0042
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0037g0042
3 HG02895.hp1
NA19030.hp2
NA19043.hp2
HG02895.hp1
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.192+57542A>G
c.192+57542A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156402219
chr5:156402715 G
G
A
A
12 a0001c0002t0002g0070
a0001c0002t0002g0087
a0001c0002t0002g0095
others(9): Show 
a0001c0002t0002g0070
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0024g0063
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0061g0103
12 HG00558.hp2
HG00639.hp1
HG01261.hp1
others(9): Show 
HG00558.hp2
HG00639.hp1
HG01261.hp1
HG01516.hp1
HG03239.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19011.hp1
NA19057.hp1
NA20300.hp1
intron_variant MODIFIER c.192+58038G>A
c.192+58038G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156402715
chr5:156402720 A
A
G
G
32 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(29): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
32 HG00639.hp2
HG01256.hp1
HG01258.hp1
others(29): Show 
HG00639.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG03139.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+58043A>G
c.192+58043A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156402720
chr5:156402748 A
A
G
G
1 a0001c0002t0002g0109
a0001c0002t0002g0109
1 HG02071.hp1
HG02071.hp1
intron_variant MODIFIER c.192+58071A>G
c.192+58071A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156402748
chr5:156402795 C
C
T
T
35 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
35 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(32): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+58118C>T
c.192+58118C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156402795
chr5:156402839 C
C
T
T
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.192+58162C>T
c.192+58162C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156402839
chr5:156402856 G
G
A
A
1 a0001c0002t0054g0073
a0001c0002t0054g0073
1 NA18990.hp1
NA18990.hp1
intron_variant MODIFIER c.192+58179G>A
c.192+58179G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156402856
chr5:156402955 G
G
A
A
30 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(27): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
30 HG00639.hp2
HG01256.hp1
HG01258.hp1
others(27): Show 
HG00639.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+58278G>A
c.192+58278G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156402955
chr5:156402992 G
G
A
A
1 a0001c0002t0002g0069
a0001c0002t0002g0069
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.192+58315G>A
c.192+58315G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156402992
chr5:156402994 G
G
C
C
1 a0001c0002t0050g0072
a0001c0002t0050g0072
1 HG02055.hp1
HG02055.hp1
intron_variant MODIFIER c.192+58317G>C
c.192+58317G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156402994
chr5:156403141 G
G
T
T
2 a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0129
a0001c0001t0005g0130
2 NA19009.hp1
NA19057.hp2
NA19009.hp1
NA19057.hp2
intron_variant MODIFIER c.192+58464G>T
c.192+58464G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156403141
chr5:156403355 C
C
T
T
3 a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0052g0111
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0052g0111
3 HG00639.hp2
HG03453.hp2
NA20129.hp1
HG00639.hp2
HG03453.hp2
NA20129.hp1
intron_variant MODIFIER c.192+58678C>T
c.192+58678C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156403355
chr5:156403410 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.192+58733T>C
c.192+58733T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156403410
chr5:156403422 C
C
T
T
1 a0001c0002t0002g0062
a0001c0002t0002g0062
1 HG00558.hp1
HG00558.hp1
intron_variant MODIFIER c.192+58745C>T
c.192+58745C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156403422
chr5:156403425 A
A
G
G
1 a0001c0002t0024g0063
a0001c0002t0024g0063
1 NA19003.hp1
NA19003.hp1
intron_variant MODIFIER c.192+58748A>G
c.192+58748A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156403425
chr5:156403478 C
C
T
T
1 a0001c0002t0004g0079
a0001c0002t0004g0079
1 NA20300.hp1
NA20300.hp1
intron_variant MODIFIER c.192+58801C>T
c.192+58801C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156403478
chr5:156403614 C
C
G
G
42 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(39): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
42 HG00558.hp2
HG00639.hp1
HG01081.hp1
others(39): Show 
HG00558.hp2
HG00639.hp1
HG01081.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02897.hp2
HG02965.hp1
HG03130.hp2
HG03239.hp1
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.192+58937C>G
c.192+58937C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156403614
chr5:156403843 C
C
CT
CT
83 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0004c0007t0020g0012
83 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(80): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.192+59175dupT
c.192+59175dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156403843
chr5:156403917 C
C
G
G
1 a0001c0002t0004g0079
a0001c0002t0004g0079
1 NA20300.hp1
NA20300.hp1
intron_variant MODIFIER c.192+59240C>G
c.192+59240C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156403917
chr5:156403946 G
G
T
T
2 a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0009g0067
a0001c0001t0021g0027
2 HG02723.hp2
HG02965.hp2
HG02723.hp2
HG02965.hp2
intron_variant MODIFIER c.192+59269G>T
c.192+59269G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156403946
chr5:156403958 C
C
T
T
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
34 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(31): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+59281C>T
c.192+59281C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156403958
chr5:156404177 G
G
A
A
13 a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0021g0046
others(10): Show 
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
13 HG01256.hp1
HG01258.hp2
HG01891.hp2
others(10): Show 
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02155.hp1
HG02698.hp1
HG02735.hp1
HG02809.hp2
HG03704.hp1
HG04115.hp2
NA18959.hp1
NA18966.hp2
NA19009.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+59500G>A
c.192+59500G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156404177
chr5:156404221 C
C
T
T
7 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
7 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(4): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+59544C>T
c.192+59544C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156404221
chr5:156404488 G
G
A
A
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.192+59811G>A
c.192+59811G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156404488
chr5:156404779 G
G
A
A
11 a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
others(8): Show 
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0010g0094
a0001c0002t0023g0112
11 HG01071.hp2
HG01978.hp2
HG02040.hp1
others(8): Show 
HG01071.hp2
HG01978.hp2
HG02040.hp1
HG02129.hp1
HG02698.hp2
HG03098.hp1
HG03486.hp2
NA18953.hp2
NA18959.hp2
NA19010.hp1
NA19010.hp2
intron_variant MODIFIER c.192+60102G>A
c.192+60102G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156404779
chr5:156404843 C
C
T
T
6 a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
others(3): Show 
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0043g0139
6 HG01070.hp2
HG01169.hp1
HG02630.hp1
others(3): Show 
HG01070.hp2
HG01169.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.192+60166C>T
c.192+60166C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156404843
chr5:156405035 C
C
A
A
81 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(78): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0004c0007t0020g0012
81 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(78): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.192+60358C>A
c.192+60358C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156405035
chr5:156405120 G
G
A
A
1 a0001c0002t0002g0093
a0001c0002t0002g0093
1 NA18953.hp2
NA18953.hp2
intron_variant MODIFIER c.192+60443G>A
c.192+60443G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156405120
chr5:156405441 T
T
C
C
82 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(79): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.192+60764T>C
c.192+60764T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156405441
chr5:156405545 C
C
T
T
1 a0001c0002t0004g0114
a0001c0002t0004g0114
1 HG01261.hp1
HG01261.hp1
intron_variant MODIFIER c.192+60868C>T
c.192+60868C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156405545
chr5:156405999 A
A
C
C
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.192+61322A>C
c.192+61322A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156405999
chr5:156406018 T
T
TAAAAA
TAAAAA
34 a0001c0001t0001g0008
a0001c0001t0001g0054
a0001c0001t0001g0147
others(31): Show 
a0001c0001t0001g0008
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0009g0036
a0001c0001t0014g0048
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
34 HG00558.hp2
HG00639.hp1
HG01258.hp1
others(31): Show 
HG00558.hp2
HG00639.hp1
HG01258.hp1
HG01261.hp1
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02071.hp2
HG02145.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02723.hp1
HG02895.hp1
HG02965.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
NA18522.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.192+61353_192+6135
others(9): Show 
c.192+61353_192+61357dupAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406018
chr5:156406018 T
T
TAAAAAA
TAAAAAA
39 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(36): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
39 HG01070.hp2
HG01081.hp1
HG01109.hp2
others(36): Show 
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01261.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.192+61352_192+6135
others(10): Show 
c.192+61352_192+61357dupAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406018
chr5:156406018 T
T
TAAAAAAA
others(1): Show 
TAAAAAAAA
7 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(4): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
7 HG02258.hp2
HG02809.hp1
HG02970.hp1
others(4): Show 
HG02258.hp2
HG02809.hp1
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+61350_192+6135
others(12): Show 
c.192+61350_192+61357dupAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406018
chr5:156406018 T
T
TAAAAAAA
others(3): Show 
TAAAAAAAAAA
2 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0050
a0001c0001t0001g0052
2 HG02257.hp2
NA18522.hp2
HG02257.hp2
NA18522.hp2
intron_variant MODIFIER c.192+61348_192+6135
others(14): Show 
c.192+61348_192+61357dupAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406018
chr5:156406018 T
T
TAAAAAAA
others(11): Show 
TAAAAAAAAAAAAAAAAAA
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.192+61357_192+6135
others(22): Show 
c.192+61357_192+61358insAAAAAAAAAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406018
chr5:156406018 T
T
TAAAAAAA
others(14): Show 
TAAAAAAAAAAAAAAAAAAAAA
3 a0001c0001t0001g0045
a0001c0002t0005g0082
a0001c0002t0010g0108
a0001c0001t0001g0045
a0001c0002t0005g0082
a0001c0002t0010g0108
3 HG03490.hp2
NA19002.hp1
NA19002.hp2
HG03490.hp2
NA19002.hp1
NA19002.hp2
intron_variant MODIFIER c.192+61357_192+6135
others(25): Show 
c.192+61357_192+61358insAAAAAAAAAAAAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406018
chr5:156406018 T
T
TAAAAAAA
others(15): Show 
TAAAAAAAAAAAAAAAAAAAAAA
8 a0001c0001t0001g0058
a0001c0001t0009g0049
a0001c0001t0009g0142
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0033g0141
a0001c0002t0002g0109
a0001c0002t0005g0097
a0001c0002t0010g0001
a0003c0005t0001g0148
8 HG02071.hp1
HG02559.hp2
HG02735.hp1
others(5): Show 
HG02071.hp1
HG02559.hp2
HG02735.hp1
HG03139.hp2
HG03225.hp2
NA18990.hp2
NA19043.hp1
NA20805.hp2
intron_variant MODIFIER c.192+61357_192+6135
others(26): Show 
c.192+61357_192+61358insAAAAAAAAAAAAAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406018
chr5:156406018 T
T
TAAAAAAA
others(16): Show 
TAAAAAAAAAAAAAAAAAAAAAAA
14 a0001c0001t0001g0143
a0001c0001t0003g0136
a0001c0001t0005g0047
others(11): Show 
a0001c0001t0001g0143
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0061
a0001c0002t0002g0077
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
14 HG01256.hp1
HG01258.hp2
HG02083.hp1
others(11): Show 
HG01256.hp1
HG01258.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp1
HG02698.hp1
HG02809.hp2
HG03453.hp2
HG03486.hp2
HG03579.hp1
HG03704.hp1
NA18906.hp2
NA18959.hp1
NA18966.hp2
intron_variant MODIFIER c.192+61357_192+6135
others(27): Show 
c.192+61357_192+61358insAAAAAAAAAAAAAAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406018
chr5:156406018 T
T
TAAAAAAA
others(17): Show 
TAAAAAAAAAAAAAAAAAAAAAAAA
9 a0001c0001t0001g0146
a0001c0001t0026g0016
a0001c0001t0048g0053
others(6): Show 
a0001c0001t0001g0146
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0107
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0008g0101
a0002c0003t0017g0014
9 HG00639.hp2
HG01071.hp2
HG01891.hp2
others(6): Show 
HG00639.hp2
HG01071.hp2
HG01891.hp2
HG02129.hp1
HG02145.hp1
HG02698.hp2
HG04115.hp2
NA18959.hp2
NA19009.hp2
intron_variant MODIFIER c.192+61357_192+6135
others(28): Show 
c.192+61357_192+61358insAAAAAAAAAAAAAAAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406018
chr5:156406018 T
T
TAAAAAAA
others(18): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAA
8 a0001c0001t0031g0021
a0001c0002t0002g0093
a0001c0002t0008g0006
others(5): Show 
a0001c0001t0031g0021
a0001c0002t0002g0093
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0094
a0001c0002t0011g0090
a0001c0002t0023g0112
a0001c0002t0044g0026
8 HG01978.hp2
HG02040.hp1
HG03098.hp1
others(5): Show 
HG01978.hp2
HG02040.hp1
HG03098.hp1
HG03471.hp2
NA18953.hp2
NA19010.hp1
NA19010.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+61357_192+6135
others(29): Show 
c.192+61357_192+61358insAAAAAAAAAAAAAAAAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406018
chr5:156406018 T
T
TAAAAAAA
others(19): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAA
1 a0001c0001t0016g0144
a0001c0001t0016g0144
1 HG01243.hp1
HG01243.hp1
intron_variant MODIFIER c.192+61357_192+6135
others(30): Show 
c.192+61357_192+61358insAAAAAAAAAAAAAAAAAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406018
chr5:156406036 G
G
T
T
117 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(114): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
117 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(114): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+61359G>T
c.192+61359G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406036
chr5:156406486 T
T
G
G
128 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
128 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(125): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+61809T>G
c.192+61809T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406486
chr5:156406674 C
C
T
T
8 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(5): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0002t0022g0029
8 HG02055.hp2
HG02717.hp2
HG02895.hp1
others(5): Show 
HG02055.hp2
HG02717.hp2
HG02895.hp1
HG03139.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.192+61997C>T
c.192+61997C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406674
chr5:156406790 T
T
TATATATA
others(14): Show 
TATATATATATATATATATATA
1 a0001c0002t0004g0092
a0001c0002t0004g0092
1 NA18964.hp2
NA18964.hp2
intron_variant MODIFIER c.192+62113_192+6211
others(25): Show 
c.192+62113_192+62114insATATATATATATATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406790
chr5:156406790 T
T
TTA
TTA
38 a0001c0001t0001g0019
a0001c0001t0001g0116
a0001c0001t0001g0122
others(35): Show 
a0001c0001t0001g0019
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0013
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0002g0095
a0001c0002t0002g0107
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0004t0001g0009
a0002c0003t0003g0140
38 HG00558.hp1
HG00639.hp1
HG01081.hp1
others(35): Show 
HG00558.hp1
HG00639.hp1
HG01081.hp1
HG01169.hp2
HG01256.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp2
HG02559.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02922.hp1
HG03041.hp1
HG03130.hp1
HG03239.hp1
HG03239.hp2
NA18959.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20805.hp1
intron_variant MODIFIER c.192+62142_192+6214
others(6): Show 
c.192+62142_192+62143dupTA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 T
T
TTATA
TTATA
15 a0001c0001t0001g0015
a0001c0001t0001g0068
a0001c0001t0003g0022
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0068
a0001c0001t0003g0022
a0001c0001t0003g0125
a0001c0001t0009g0036
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0040g0131
a0001c0002t0002g0093
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0010g0094
a0001c0002t0023g0112
a0001c0004t0017g0007
15 HG01070.hp1
HG01071.hp1
HG01081.hp2
others(12): Show 
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG02129.hp2
HG02630.hp2
HG02895.hp1
HG02897.hp2
HG03098.hp1
HG03490.hp2
NA18953.hp2
NA19010.hp1
NA19010.hp2
NA20805.hp2
intron_variant MODIFIER c.192+62140_192+6214
others(8): Show 
c.192+62140_192+62143dupTATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 T
T
TTATATA
TTATATA
3 a0001c0001t0003g0119
a0001c0001t0009g0067
a0001c0001t0041g0028
a0001c0001t0003g0119
a0001c0001t0009g0067
a0001c0001t0041g0028
3 HG02615.hp1
HG02723.hp2
HG02735.hp2
HG02615.hp1
HG02723.hp2
HG02735.hp2
intron_variant MODIFIER c.192+62138_192+6214
others(10): Show 
c.192+62138_192+62143dupTATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 T
T
TTATATAT
others(1): Show 
TTATATATA
4 a0001c0001t0001g0023
a0001c0001t0021g0027
a0001c0001t0025g0035
others(1): Show 
a0001c0001t0001g0023
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0002t0050g0072
4 HG02055.hp1
HG02965.hp2
HG03704.hp2
others(1): Show 
HG02055.hp1
HG02965.hp2
HG03704.hp2
NA20129.hp2
intron_variant MODIFIER c.192+62136_192+6214
others(12): Show 
c.192+62136_192+62143dupTATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 T
T
TTATATAT
others(3): Show 
TTATATATATA
8 a0001c0001t0001g0025
a0001c0001t0001g0117
a0001c0001t0012g0059
others(5): Show 
a0001c0001t0001g0025
a0001c0001t0001g0117
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0022g0029
a0001c0002t0051g0099
8 HG02717.hp2
HG02895.hp2
HG02897.hp1
others(5): Show 
HG02717.hp2
HG02895.hp2
HG02897.hp1
HG03139.hp1
NA18985.hp1
NA19066.hp2
NA19240.hp2
NA20300.hp2
intron_variant MODIFIER c.192+62134_192+6214
others(14): Show 
c.192+62134_192+62143dupTATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 T
T
TTATATAT
others(5): Show 
TTATATATATATA
2 a0001c0002t0011g0051
a0001c0002t0058g0089
a0001c0002t0011g0051
a0001c0002t0058g0089
2 HG02071.hp2
HG02145.hp2
HG02071.hp2
HG02145.hp2
intron_variant MODIFIER c.192+62132_192+6214
others(16): Show 
c.192+62132_192+62143dupTATATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 T
T
TTATATAT
others(7): Show 
TTATATATATATATA
9 a0001c0001t0001g0054
a0001c0001t0003g0056
a0001c0001t0014g0055
others(6): Show 
a0001c0001t0001g0054
a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0046g0121
a0001c0002t0004g0079
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0055g0091
a0004c0007t0020g0012
9 HG00558.hp2
HG01070.hp2
HG01169.hp1
others(6): Show 
HG00558.hp2
HG01070.hp2
HG01169.hp1
HG01261.hp2
HG01516.hp2
HG01981.hp2
HG02622.hp2
NA19003.hp2
NA20300.hp1
intron_variant MODIFIER c.192+62130_192+6214
others(18): Show 
c.192+62130_192+62143dupTATATATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 T
T
TTATATAT
others(9): Show 
TTATATATATATATATA
7 a0001c0001t0001g0147
a0001c0001t0003g0018
a0001c0001t0013g0057
others(4): Show 
a0001c0001t0001g0147
a0001c0001t0003g0018
a0001c0001t0013g0057
a0001c0001t0032g0020
a0001c0001t0049g0149
a0001c0002t0002g0098
a0001c0002t0002g0102
7 HG02056.hp1
HG02615.hp2
HG03130.hp2
others(4): Show 
HG02056.hp1
HG02615.hp2
HG03130.hp2
HG03225.hp1
HG03490.hp1
NA18964.hp1
NA19090.hp2
intron_variant MODIFIER c.192+62128_192+6214
others(20): Show 
c.192+62128_192+62143dupTATATATATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 T
T
TTATATAT
others(11): Show 
TTATATATATATATATATA
3 a0001c0001t0027g0011
a0001c0002t0002g0080
a0001c0002t0054g0073
a0001c0001t0027g0011
a0001c0002t0002g0080
a0001c0002t0054g0073
3 HG02040.hp2
NA18990.hp1
NA19030.hp1
HG02040.hp2
NA18990.hp1
NA19030.hp1
intron_variant MODIFIER c.192+62126_192+6214
others(22): Show 
c.192+62126_192+62143dupTATATATATATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 T
T
TTATATAT
others(13): Show 
TTATATATATATATATATATA
2 a0001c0002t0002g0087
a0001c0002t0060g0074
a0001c0002t0002g0087
a0001c0002t0060g0074
2 HG02965.hp1
NA19057.hp1
HG02965.hp1
NA19057.hp1
intron_variant MODIFIER c.192+62124_192+6214
others(24): Show 
c.192+62124_192+62143dupTATATATATATATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 T
T
TTATATAT
others(15): Show 
TTATATATATATATATATATATA
3 a0001c0001t0043g0139
a0001c0002t0010g0005
a0001c0002t0013g0030
a0001c0001t0043g0139
a0001c0002t0010g0005
a0001c0002t0013g0030
3 HG02630.hp1
HG02970.hp2
NA18953.hp1
HG02630.hp1
HG02970.hp2
NA18953.hp1
intron_variant MODIFIER c.192+62122_192+6214
others(26): Show 
c.192+62122_192+62143dupTATATATATATATATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 T
T
TTATATAT
others(19): Show 
TTATATATATATATATATATATATATA
2 a0001c0002t0024g0100
a0001c0002t0061g0103
a0001c0002t0024g0100
a0001c0002t0061g0103
2 HG01258.hp1
NA19011.hp1
HG01258.hp1
NA19011.hp1
intron_variant MODIFIER c.192+62118_192+6214
others(30): Show 
c.192+62118_192+62143dupTATATATATATATATATATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 TTATATAT
others(3): Show 
TTATATATATA
T
T
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.192+62134_192+6214
others(14): Show 
c.192+62134_192+62143delTATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 TTATATAT
others(5): Show 
TTATATATATATA
T
T
1 a0001c0002t0052g0111
a0001c0002t0052g0111
1 HG03453.hp2
HG03453.hp2
intron_variant MODIFIER c.192+62132_192+6214
others(16): Show 
c.192+62132_192+62143delTATATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 TTATATAT
others(7): Show 
TTATATATATATATA
T
T
26 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(23): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
26 HG00639.hp2
HG01256.hp1
HG01258.hp2
others(23): Show 
HG00639.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03471.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+62130_192+6214
others(18): Show 
c.192+62130_192+62143delTATATATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406790 TTATATAT
others(9): Show 
TTATATATATATATATA
T
T
7 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
7 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(4): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+62128_192+6214
others(20): Show 
c.192+62128_192+62143delTATATATATATATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406790
chr5:156406807 TATATATA
others(11): Show 
TATATATATATATACACAC
T
T
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.192+62132_192+6214
others(22): Show 
c.192+62132_192+62149delTATATATATATACACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406807
chr5:156406815 TATATACA
others(5): Show 
TATATACACACAC
T
T
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.192+62140_192+6215
others(16): Show 
c.192+62140_192+62151delTATACACACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406815
chr5:156406817 T
T
C
C
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.192+62140T>C
c.192+62140T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406817
chr5:156406819 T
T
C
C
3 a0001c0001t0012g0010
a0001c0001t0047g0003
a0001c0002t0052g0111
a0001c0001t0012g0010
a0001c0001t0047g0003
a0001c0002t0052g0111
3 HG01981.hp1
HG03453.hp2
NA20129.hp1
HG01981.hp1
HG03453.hp2
NA20129.hp1
intron_variant MODIFIER c.192+62142T>C
c.192+62142T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406819
chr5:156406819 TACAC
TACAC
T
T
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+62162_192+6216
others(8): Show 
c.192+62162_192+62165delCACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156406819
chr5:156406821 C
C
T
T
102 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(99): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0004c0007t0020g0012
102 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(99): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp2
NA18522.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.192+62144C>T
c.192+62144C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406821
chr5:156406823 C
C
T
T
71 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(68): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0004c0007t0020g0012
71 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(68): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03490.hp1
HG03490.hp2
HG03704.hp2
NA18522.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.192+62146C>T
c.192+62146C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406823
chr5:156406825 C
C
T
T
78 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(75): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0004c0007t0020g0012
78 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(75): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.192+62148C>T
c.192+62148C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406825
chr5:156406827 C
C
T
T
61 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(58): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0058g0089
a0001c0004t0001g0009
a0001c0004t0017g0007
a0004c0007t0020g0012
61 HG01070.hp2
HG01081.hp1
HG01109.hp2
others(58): Show 
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01261.hp2
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03579.hp2
HG03704.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA19003.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.192+62150C>T
c.192+62150C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406827
chr5:156406829 C
C
T
T
18 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(15): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0002t0022g0029
a0001c0002t0050g0072
18 HG01070.hp2
HG01169.hp1
HG02055.hp1
others(15): Show 
HG01070.hp2
HG01169.hp1
HG02055.hp1
HG02055.hp2
HG02615.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.192+62152C>T
c.192+62152C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406829
chr5:156406843 T
T
C
C
2 a0001c0001t0001g0025
a0001c0002t0024g0100
a0001c0001t0001g0025
a0001c0002t0024g0100
2 HG01258.hp1
HG03139.hp1
HG01258.hp1
HG03139.hp1
intron_variant MODIFIER c.192+62166T>C
c.192+62166T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406843
chr5:156406849 T
T
A
A
1 a0001c0002t0002g0109
a0001c0002t0002g0109
1 HG02071.hp1
HG02071.hp1
intron_variant MODIFIER c.192+62172T>A
c.192+62172T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406849
chr5:156406869 T
T
G
G
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.192+62192T>G
c.192+62192T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406869
chr5:156406894 A
A
G
G
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+62217A>G
c.192+62217A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406894
chr5:156406930 G
G
T
T
81 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(78): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0004c0007t0020g0012
81 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(78): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.192+62253G>T
c.192+62253G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156406930
chr5:156407454 C
C
T
T
2 a0001c0001t0048g0053
a0001c0002t0052g0111
a0001c0001t0048g0053
a0001c0002t0052g0111
2 HG00639.hp2
HG03453.hp2
HG00639.hp2
HG03453.hp2
intron_variant MODIFIER c.192+62777C>T
c.192+62777C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156407454
chr5:156407809 AC
AC
A
A
28 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(25): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
28 HG00639.hp2
HG01256.hp1
HG01258.hp2
others(25): Show 
HG00639.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03453.hp2
HG03471.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+63133delC
c.192+63133delC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156407809
chr5:156407820 A
A
G
G
1 a0001c0002t0002g0095
a0001c0002t0002g0095
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.192+63143A>G
c.192+63143A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156407820
chr5:156407909 G
G
T
T
35 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
35 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(32): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02071.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+63232G>T
c.192+63232G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156407909
chr5:156408095 A
A
G
G
1 a0001c0002t0015g0081
a0001c0002t0015g0081
1 NA19003.hp2
NA19003.hp2
intron_variant MODIFIER c.192+63418A>G
c.192+63418A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156408095
chr5:156408112 G
G
A
A
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
34 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(31): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+63435G>A
c.192+63435G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156408112
chr5:156408332 G
G
A
A
3 a0001c0002t0004g0079
a0001c0002t0004g0092
a0001c0002t0055g0091
a0001c0002t0004g0079
a0001c0002t0004g0092
a0001c0002t0055g0091
3 HG00558.hp2
NA18964.hp2
NA20300.hp1
HG00558.hp2
NA18964.hp2
NA20300.hp1
intron_variant MODIFIER c.192+63655G>A
c.192+63655G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156408332
chr5:156408358 A
A
AT
AT
6 a0001c0001t0001g0117
a0001c0001t0006g0066
a0001c0001t0009g0036
others(3): Show 
a0001c0001t0001g0117
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0002t0058g0089
6 HG02145.hp2
HG02717.hp2
HG02895.hp1
others(3): Show 
HG02145.hp2
HG02717.hp2
HG02895.hp1
HG02970.hp1
HG03098.hp2
NA19043.hp2
intron_variant MODIFIER c.192+63698dupT
c.192+63698dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156408358
chr5:156408358 AT
AT
A
A
37 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(34): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
37 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(34): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02922.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+63698delT
c.192+63698delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156408358
chr5:156408466 C
C
A
A
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
34 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(31): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+63789C>A
c.192+63789C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156408466
chr5:156408637 G
G
C
C
7 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
7 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(4): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+63960G>C
c.192+63960G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156408637
chr5:156408645 C
C
T
T
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.192+63968C>T
c.192+63968C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156408645
chr5:156408763 C
C
T
T
3 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
3 HG01243.hp2
HG02258.hp1
HG03453.hp1
HG01243.hp2
HG02258.hp1
HG03453.hp1
intron_variant MODIFIER c.192+64086C>T
c.192+64086C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156408763
chr5:156408813 G
G
T
T
1 a0001c0002t0002g0087
a0001c0002t0002g0087
1 NA19057.hp1
NA19057.hp1
intron_variant MODIFIER c.192+64136G>T
c.192+64136G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156408813
chr5:156408915 G
G
A
A
82 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(79): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.192+64238G>A
c.192+64238G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156408915
chr5:156409040 G
G
A
A
35 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
35 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(32): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02071.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+64363G>A
c.192+64363G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156409040
chr5:156409411 G
G
A
A
1 a0001c0001t0031g0021
a0001c0001t0031g0021
1 HG01978.hp2
HG01978.hp2
intron_variant MODIFIER c.192+64734G>A
c.192+64734G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156409411
chr5:156409425 C
C
T
T
1 a0001c0001t0001g0122
a0001c0001t0001g0122
1 HG02083.hp2
HG02083.hp2
intron_variant MODIFIER c.192+64748C>T
c.192+64748C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156409425
chr5:156409688 A
A
T
T
36 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(33): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
36 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(33): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+65011A>T
c.192+65011A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156409688
chr5:156409692 A
A
C
C
19 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0022g0029
a0001c0002t0050g0072
19 HG01070.hp2
HG01169.hp1
HG02055.hp1
others(16): Show 
HG01070.hp2
HG01169.hp1
HG02055.hp1
HG02055.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.192+65015A>C
c.192+65015A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156409692
chr5:156409773 C
C
T
T
35 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
35 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(32): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+65096C>T
c.192+65096C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156409773
chr5:156409832 C
C
T
T
35 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
35 HG00639.hp2
HG01243.hp1
HG01256.hp1
others(32): Show 
HG00639.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+65155C>T
c.192+65155C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156409832
chr5:156410111 A
A
C
C
11 a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
others(8): Show 
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0010g0094
a0001c0002t0023g0112
11 HG01071.hp2
HG01978.hp2
HG02040.hp1
others(8): Show 
HG01071.hp2
HG01978.hp2
HG02040.hp1
HG02129.hp1
HG02698.hp2
HG03098.hp1
HG03486.hp2
NA18953.hp2
NA18959.hp2
NA19010.hp1
NA19010.hp2
intron_variant MODIFIER c.192+65434A>C
c.192+65434A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156410111
chr5:156410233 T
T
C
C
13 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
others(10): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
13 HG01109.hp2
HG01243.hp2
HG02258.hp1
others(10): Show 
HG01109.hp2
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp1
NA18522.hp1
NA19240.hp1
intron_variant MODIFIER c.192+65556T>C
c.192+65556T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156410233
chr5:156410530 G
G
A
A
109 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(106): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
109 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(106): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+65853G>A
c.192+65853G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156410530
chr5:156410815 A
A
G
G
1 a0001c0002t0050g0072
a0001c0002t0050g0072
1 HG02055.hp1
HG02055.hp1
intron_variant MODIFIER c.192+66138A>G
c.192+66138A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156410815
chr5:156410892 A
A
G
G
1 a0001c0002t0002g0098
a0001c0002t0002g0098
1 NA18964.hp1
NA18964.hp1
intron_variant MODIFIER c.192+66215A>G
c.192+66215A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156410892
chr5:156411012 A
A
C
C
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.192+66335A>C
c.192+66335A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156411012
chr5:156411049 A
A
G
G
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.192+66372A>G
c.192+66372A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156411049
chr5:156411395 A
A
C
C
2 a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0009g0067
a0001c0001t0021g0027
2 HG02723.hp2
HG02965.hp2
HG02723.hp2
HG02965.hp2
intron_variant MODIFIER c.192+66718A>C
c.192+66718A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156411395
chr5:156411497 T
T
G
G
1 a0001c0002t0002g0062
a0001c0002t0002g0062
1 HG00558.hp1
HG00558.hp1
intron_variant MODIFIER c.192+66820T>G
c.192+66820T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156411497
chr5:156411803 T
T
C
C
109 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(106): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
109 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(106): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+67126T>C
c.192+67126T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156411803
chr5:156411846 T
T
C
C
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.192+67169T>C
c.192+67169T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156411846
chr5:156411908 G
G
GGTT
GGTT
128 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
128 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(125): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+67232_192+6723
others(7): Show 
c.192+67232_192+67234dupGTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156411908
chr5:156412005 T
T
C
C
3 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
3 HG01243.hp2
HG02258.hp1
HG03453.hp1
HG01243.hp2
HG02258.hp1
HG03453.hp1
intron_variant MODIFIER c.192+67328T>C
c.192+67328T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156412005
chr5:156412119 C
C
T
T
59 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(56): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.192+67442C>T
c.192+67442C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156412119
chr5:156412159 C
C
T
T
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.192+67482C>T
c.192+67482C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156412159
chr5:156412787 CT
CT
C
C
115 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(112): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
115 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(112): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+68129delT
c.192+68129delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156412787
chr5:156412837 G
G
T
T
1 a0001c0001t0034g0118
a0001c0001t0034g0118
1 HG01256.hp2
HG01256.hp2
intron_variant MODIFIER c.192+68160G>T
c.192+68160G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156412837
chr5:156412920 T
T
C
C
149 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(146): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
149 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(146): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+68243T>C
c.192+68243T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156412920
chr5:156413043 T
T
C
C
119 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(116): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
119 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(116): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+68366T>C
c.192+68366T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156413043
chr5:156413205 C
C
T
T
1 a0001c0002t0051g0099
a0001c0002t0051g0099
1 NA19066.hp2
NA19066.hp2
intron_variant MODIFIER c.192+68528C>T
c.192+68528C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156413205
chr5:156413236 G
G
A
A
15 a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0021g0046
others(12): Show 
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0011g0090
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
15 HG01256.hp1
HG01258.hp1
HG01258.hp2
others(12): Show 
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02698.hp1
HG02735.hp1
HG02809.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18959.hp1
NA18966.hp2
NA19009.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+68559G>A
c.192+68559G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156413236
chr5:156413797 A
A
T
T
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(115): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+69120A>T
c.192+69120A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156413797
chr5:156413842 AT
AT
A
A
9 a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
others(6): Show 
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0023g0112
9 HG01071.hp2
HG01978.hp2
HG02129.hp1
others(6): Show 
HG01071.hp2
HG01978.hp2
HG02129.hp1
HG02698.hp2
HG03098.hp1
HG03486.hp2
NA18953.hp2
NA18959.hp2
NA19010.hp1
intron_variant MODIFIER c.192+69177delT
c.192+69177delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156413842
chr5:156413854 T
T
A
A
7 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
7 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(4): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+69177T>A
c.192+69177T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156413854
chr5:156413942 C
C
T
T
1 a0001c0002t0051g0099
a0001c0002t0051g0099
1 NA19066.hp2
NA19066.hp2
intron_variant MODIFIER c.192+69265C>T
c.192+69265C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156413942
chr5:156414643 G
G
A
A
127 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(124): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
127 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(124): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+69966G>A
c.192+69966G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156414643
chr5:156414979 G
G
A
A
1 a0001c0002t0002g0069
a0001c0002t0002g0069
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.192+70302G>A
c.192+70302G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156414979
chr5:156415320 T
T
C
C
3 a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0037g0042
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0037g0042
3 HG02895.hp1
NA19030.hp2
NA19043.hp2
HG02895.hp1
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.192+70643T>C
c.192+70643T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156415320
chr5:156415650 A
A
G
G
1 a0001c0002t0004g0114
a0001c0002t0004g0114
1 HG01261.hp1
HG01261.hp1
intron_variant MODIFIER c.192+70973A>G
c.192+70973A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156415650
chr5:156416048 A
A
G
G
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.192+71371A>G
c.192+71371A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156416048
chr5:156416123 T
T
A
A
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.192+71446T>A
c.192+71446T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156416123
chr5:156416326 A
A
G
G
8 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0002t0057g0110
a0001c0006t0018g0145
8 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(5): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.192+71649A>G
c.192+71649A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156416326
chr5:156416402 G
G
A
A
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(115): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+71725G>A
c.192+71725G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156416402
chr5:156416448 C
C
T
T
59 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(56): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.192+71771C>T
c.192+71771C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156416448
chr5:156416544 G
G
A
A
2 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0003g0056
a0001c0001t0014g0055
2 HG01070.hp2
HG01169.hp1
HG01070.hp2
HG01169.hp1
intron_variant MODIFIER c.192+71867G>A
c.192+71867G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156416544
chr5:156416546 G
G
A
A
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(115): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+71869G>A
c.192+71869G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156416546
chr5:156416552 A
A
G
G
1 a0001c0002t0002g0080
a0001c0002t0002g0080
1 HG02040.hp2
HG02040.hp2
intron_variant MODIFIER c.192+71875A>G
c.192+71875A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156416552
chr5:156416619 A
A
G
G
103 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
103 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(100): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+71942A>G
c.192+71942A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156416619
chr5:156416679 C
C
G
G
1 a0001c0001t0006g0037
a0001c0001t0006g0037
1 HG02258.hp2
HG02258.hp2
intron_variant MODIFIER c.192+72002C>G
c.192+72002C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156416679
chr5:156417082 T
T
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+72405T>A
c.192+72405T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156417082
chr5:156417100 G
G
A
A
39 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(36): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
39 HG00558.hp2
HG00639.hp1
HG01081.hp1
others(36): Show 
HG00558.hp2
HG00639.hp1
HG01081.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02615.hp2
HG02622.hp2
HG02897.hp2
HG02965.hp1
HG03130.hp2
HG03239.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.192+72423G>A
c.192+72423G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156417100
chr5:156417120 A
A
T
T
5 a0001c0001t0001g0045
a0001c0001t0038g0044
a0001c0002t0010g0001
others(2): Show 
a0001c0001t0001g0045
a0001c0001t0038g0044
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
5 HG02083.hp1
NA18990.hp2
NA19002.hp1
others(2): Show 
HG02083.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
intron_variant MODIFIER c.192+72443A>T
c.192+72443A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156417120
chr5:156417232 C
C
T
T
103 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
103 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(100): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+72555C>T
c.192+72555C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156417232
chr5:156417337 C
C
T
T
31 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(28): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
31 HG00639.hp2
HG01109.hp2
HG01256.hp1
others(28): Show 
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+72660C>T
c.192+72660C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156417337
chr5:156417398 C
C
T
T
16 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(13): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0038g0044
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0044g0026
16 HG01109.hp2
HG02083.hp1
HG02257.hp2
others(13): Show 
HG01109.hp2
HG02083.hp1
HG02257.hp2
HG02717.hp1
HG02723.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
NA18522.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19240.hp1
intron_variant MODIFIER c.192+72721C>T
c.192+72721C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156417398
chr5:156417495 C
C
T
T
1 a0001c0001t0006g0041
a0001c0001t0006g0041
1 HG03579.hp2
HG03579.hp2
intron_variant MODIFIER c.192+72818C>T
c.192+72818C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156417495
chr5:156417744 A
A
G
G
15 a0001c0001t0001g0008
a0001c0001t0006g0037
a0001c0001t0006g0038
others(12): Show 
a0001c0001t0001g0008
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
15 HG01243.hp2
HG02258.hp1
HG02258.hp2
others(12): Show 
HG01243.hp2
HG02258.hp1
HG02258.hp2
HG02622.hp1
HG02630.hp2
HG02809.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp1
NA18906.hp1
intron_variant MODIFIER c.192+73067A>G
c.192+73067A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156417744
chr5:156417752 C
C
G
G
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.192+73075C>G
c.192+73075C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156417752
chr5:156417769 A
A
T
T
9 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(6): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0002t0022g0029
a0001c0002t0052g0111
9 HG02055.hp2
HG02717.hp2
HG02895.hp1
others(6): Show 
HG02055.hp2
HG02717.hp2
HG02895.hp1
HG03139.hp1
HG03453.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.192+73092A>T
c.192+73092A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156417769
chr5:156417783 T
T
C
C
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.192+73106T>C
c.192+73106T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156417783
chr5:156417801 C
C
A
A
38 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(35): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
38 HG00639.hp2
HG01109.hp2
HG01243.hp1
others(35): Show 
HG00639.hp2
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+73124C>A
c.192+73124C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156417801
chr5:156418002 A
A
G
G
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.192+73325A>G
c.192+73325A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156418002
chr5:156418182 A
A
G
G
1 a0002c0003t0003g0140
a0002c0003t0003g0140
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.192+73505A>G
c.192+73505A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156418182
chr5:156418752 G
G
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+74075G>A
c.192+74075G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156418752
chr5:156418936 T
T
C
C
2 a0001c0002t0002g0087
a0001c0002t0061g0103
a0001c0002t0002g0087
a0001c0002t0061g0103
2 NA19011.hp1
NA19057.hp1
NA19011.hp1
NA19057.hp1
intron_variant MODIFIER c.192+74259T>C
c.192+74259T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156418936
chr5:156419049 C
C
T
T
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(115): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+74372C>T
c.192+74372C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156419049
chr5:156419243 C
C
T
T
1 a0001c0002t0058g0089
a0001c0002t0058g0089
1 HG02145.hp2
HG02145.hp2
intron_variant MODIFIER c.192+74566C>T
c.192+74566C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156419243
chr5:156419541 C
C
T
T
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.192+74864C>T
c.192+74864C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156419541
chr5:156419545 G
G
A
A
2 a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0005g0082
a0001c0002t0005g0097
2 HG03490.hp2
NA20805.hp2
HG03490.hp2
NA20805.hp2
intron_variant MODIFIER c.192+74868G>A
c.192+74868G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156419545
chr5:156419835 A
A
G
G
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.192+75158A>G
c.192+75158A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156419835
chr5:156419964 T
T
G
G
104 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(101): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
104 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(101): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+75287T>G
c.192+75287T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156419964
chr5:156419998 C
C
T
T
2 a0001c0001t0006g0037
a0001c0001t0036g0043
a0001c0001t0006g0037
a0001c0001t0036g0043
2 HG02258.hp2
NA18906.hp1
HG02258.hp2
NA18906.hp1
intron_variant MODIFIER c.192+75321C>T
c.192+75321C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156419998
chr5:156420143 A
A
G
G
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.192+75466A>G
c.192+75466A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156420143
chr5:156420481 T
T
C
C
6 a0001c0001t0001g0045
a0001c0001t0038g0044
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0045
a0001c0001t0038g0044
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0015g0078
6 HG02083.hp1
HG02155.hp1
NA18990.hp2
others(3): Show 
HG02083.hp1
HG02155.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
intron_variant MODIFIER c.192+75804T>C
c.192+75804T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156420481
chr5:156420529 T
T
A
A
41 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(38): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
41 HG00639.hp2
HG01109.hp2
HG01243.hp1
others(38): Show 
HG00639.hp2
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+75852T>A
c.192+75852T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156420529
chr5:156420670 T
T
G
G
128 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
128 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(125): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+75993T>G
c.192+75993T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156420670
chr5:156420721 A
A
G
G
7 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03453.hp1
NA18522.hp1
intron_variant MODIFIER c.192+76044A>G
c.192+76044A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156420721
chr5:156421008 GTCTT
GTCTT
G
G
7 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
7 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(4): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.192+76338_192+7634
others(8): Show 
c.192+76338_192+76341delTTTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156421008
chr5:156421114 T
T
C
C
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.192+76437T>C
c.192+76437T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156421114
chr5:156421333 G
G
A
A
9 a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
others(6): Show 
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0023g0112
9 HG01071.hp2
HG01978.hp2
HG02129.hp1
others(6): Show 
HG01071.hp2
HG01978.hp2
HG02129.hp1
HG02698.hp2
HG03098.hp1
HG03486.hp2
NA18953.hp2
NA18959.hp2
NA19010.hp1
intron_variant MODIFIER c.192+76656G>A
c.192+76656G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156421333
chr5:156421401 G
G
A
A
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.192+76724G>A
c.192+76724G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156421401
chr5:156421775 C
C
T
T
103 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
103 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(100): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+77098C>T
c.192+77098C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156421775
chr5:156422084 G
G
C
C
2 a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0005g0047
a0001c0001t0021g0046
2 HG01256.hp1
HG01258.hp2
HG01256.hp1
HG01258.hp2
intron_variant MODIFIER c.192+77407G>C
c.192+77407G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156422084
chr5:156422109 T
T
C
C
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(115): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+77432T>C
c.192+77432T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156422109
chr5:156422180 G
G
C
C
60 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(57): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
60 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(57): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.192+77503G>C
c.192+77503G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156422180
chr5:156422609 T
T
C
C
1 a0001c0002t0052g0111
a0001c0002t0052g0111
1 HG03453.hp2
HG03453.hp2
intron_variant MODIFIER c.192+77932T>C
c.192+77932T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156422609
chr5:156422737 G
G
A
A
2 a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0005g0047
a0001c0001t0021g0046
2 HG01256.hp1
HG01258.hp2
HG01256.hp1
HG01258.hp2
intron_variant MODIFIER c.192+78060G>A
c.192+78060G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156422737
chr5:156423160 ATAT
ATAT
A
A
103 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
103 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(100): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78487_192+7848
others(7): Show 
c.192+78487_192+78489delTAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423160
chr5:156423193 A
A
AATATATT
others(223): Show 
AATATATTTTATTATAATATAATATTATATTATATTTTATTATAATATAA
TATAATATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATATTATATTATAATATAATATAATATAATATTTTATTATA
ATATAATATTATATTTTATTATAATATAATATTATATTATAATATAATAT
AATATTGTATTATATTTTATTATAATATAAT
7 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03453.hp1
NA18522.hp1
intron_variant MODIFIER c.192+78520_192+7852
others(234): Show 
c.192+78520_192+78521insATTTTATTATAATATAATATTATATT
ATATTTTATTATAATATAATATAATATATTTTATTATAATATAATATAAT
ATTATATTTTATTATAATATAATATAATATATTATATTATAATATAATAT
AATATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATA
TTATATTATAATATAATATAATATTGTATTATATTTTATTATAATATAAT
ATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(155): Show 
AATATTATATTTTATTATAATATAATATAATATATTTTATTATAATATAA
TATAATATTATATTTTATTATAATATAATATTATATTTTATTATAATATA
ATATTATATTATAATATAATATTGTATTATATTTTATTATAATATAATAT
ATTATAGTATAAT
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.192+78551_192+7855
others(166): Show 
c.192+78551_192+78552insTTATTATAATATAATATAATATTATA
TTTTATTATAATATAATATTATATTTTATTATAATATAATATTATATTAT
AATATAATATTGTATTATATTTTATTATAATATAATATATTATAGTATAA
TATATTATATTTTATTATAATATAATATAATATATT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(160): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTATATTATAATA
TAATATAATATAATATTTTATTATAATATAATATTATATTTTATTATAAT
ATAATATATTATAATATAATATAATATTGTATTATATTTTATTATAATAT
AATATATTATATTATAAT
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.192+78548_192+7854
others(171): Show 
c.192+78548_192+78549insTATATTATATTATAATATAATATAAT
ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATAT
TATAATATAATATAATATTGTATTATATTTTATTATAATATAATATATTA
TATTATAATATATTATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(165): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATAATATTTTATTATAATATAATATTATATTTTATTATAAT
ATAATATATTATAATATAATATAATATTGTATTATATTTTATTATAATAT
AATATATTATATTTTATTATAAT
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.192+78548_192+7854
others(176): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATAT
TATAATATAATATAATATTGTATTATATTTTATTATAATATAATATATTA
TATTTTATTATAATATATTATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(163): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATAATATTTTATTATAATATAATATTATATTTTATTATAAT
ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA
TATAATATATTATATTATAAT
38 a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
others(35): Show 
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
38 HG00558.hp2
HG00639.hp1
HG01081.hp1
others(35): Show 
HG00558.hp2
HG00639.hp1
HG01081.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02145.hp2
HG02615.hp2
HG02622.hp2
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp2
HG03486.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.192+78548_192+7854
others(174): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA
TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATA
TTATATTATAATATATTATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(203): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATAATATTTTATTATAATATAATATTATATTTTATTATAAT
ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA
TATAATATATTATATTATAATATATTATATTTTATTATAATATAATATAT
TATATTATAAT
2 a0001c0001t0001g0015
a0001c0001t0027g0011
a0001c0001t0001g0015
a0001c0001t0027g0011
2 HG02129.hp2
NA19030.hp1
HG02129.hp2
NA19030.hp1
intron_variant MODIFIER c.192+78548_192+7854
others(214): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA
TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATA
TTATATTATAATATATTATATTTTATTATAATATAATATATTATATTATA
ATATATTATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(168): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATAATATTTTATTATAATATAATATTATATTTTATTATAAT
ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA
TATAATATATTATATTTTATTATAAT
26 a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
others(23): Show 
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0031g0021
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0104
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0023g0112
26 HG00558.hp1
HG01070.hp1
HG01071.hp1
others(23): Show 
HG00558.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02056.hp2
HG02129.hp1
HG02735.hp2
HG03098.hp1
HG03486.hp2
NA18953.hp2
NA18959.hp2
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.192+78548_192+7854
others(179): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA
TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATA
TTATATTTTATTATAATATATTATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(219): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATAATATTTTATTATAATATAATATTATATTTTATTATAAT
ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA
TATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATA
ATATAATATATTATATTTTATTATAAT
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.192+78548_192+7854
others(230): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA
TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATT
ATATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATAT
ATTATATTTTATTATAATATATTATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(160): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATATTTTATTATAATATAATATTATATTTTATTATAATATA
ATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAATAT
AATATATTATATTATAAT
5 a0001c0001t0001g0045
a0001c0001t0038g0044
a0001c0002t0010g0094
others(2): Show 
a0001c0001t0001g0045
a0001c0001t0038g0044
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0015g0078
5 HG02083.hp1
HG02155.hp1
NA19002.hp1
others(2): Show 
HG02083.hp1
HG02155.hp1
NA19002.hp1
NA19002.hp2
NA19010.hp2
intron_variant MODIFIER c.192+78548_192+7854
others(171): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTATAT
TATAATATAATATAATATTGTATTATATTTTATTATAATATAATATATTA
TATTATAATATATTATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(191): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATTATATTTTATTATAATATAATATAATATAATATTTTATT
ATAATATAATATTATATTTTATTATAATATAATATTATATTATAATATAA
TATAATATTGTATTACATTTTATTATAATATAATATATTATATTATAAT
1 a0001c0001t0001g0116
a0001c0001t0001g0116
1 HG02055.hp2
HG02055.hp2
intron_variant MODIFIER c.192+78548_192+7854
others(202): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATTATATTTTATTATAATATAATATAATATAATATTTTATTATAATATAA
TATTATATTTTATTATAATATAATATTATATTATAATATAATATAATATT
GTATTACATTTTATTATAATATAATATATTATATTATAATATATTATATT
TTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(191): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATTATATTTTATTATAATATAATATAATATAATATTTTATT
ATAATATAATATTATATTTTATTATAATATAATATTATATTATAATATAA
TATAATATTGTATTATATTTTATTATAATATAATATATTATATTATAAT
8 a0001c0001t0001g0025
a0001c0001t0001g0117
a0001c0001t0009g0036
others(5): Show 
a0001c0001t0001g0025
a0001c0001t0001g0117
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0018g0039
a0001c0001t0037g0042
a0001c0002t0022g0029
a0001c0002t0052g0111
8 HG02717.hp2
HG02723.hp2
HG02895.hp1
others(5): Show 
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG03139.hp1
HG03453.hp2
NA19030.hp2
NA19043.hp2
NA20300.hp2
intron_variant MODIFIER c.192+78548_192+7854
others(202): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATTATATTTTATTATAATATAATATAATATAATATTTTATTATAATATAA
TATTATATTTTATTATAATATAATATTATATTATAATATAATATAATATT
GTATTATATTTTATTATAATATAATATATTATATTATAATATATTATATT
TTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(196): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATTATATTTTATTATAATATAATATAATATAATATTTTATT
ATAATATAATATTATATTTTATTATAATATAATATTATATTATAATATAA
TATAATATTGTATTATATTTTATTATAATATAATATATTATATTTTATTA
TAAT
1 a0002c0003t0003g0140
a0002c0003t0003g0140
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.192+78548_192+7854
others(207): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATTATATTTTATTATAATATAATATAATATAATATTTTATTATAATATAA
TATTATATTTTATTATAATATAATATTATATTATAATATAATATAATATT
GTATTATATTTTATTATAATATAATATATTATATTTTATTATAATATATT
ATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(188): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATTATATTTTATTATAATATAATATAATATATTTTATTATA
ATATAATATTATATTTTATTATAATATAATATTATATTATAATATAATAT
AATATTGTATTATATTTTATTATAATATAATATATTATATTATAAT
1 a0001c0002t0010g0001
a0001c0002t0010g0001
1 NA18990.hp2
NA18990.hp2
intron_variant MODIFIER c.192+78548_192+7854
others(199): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATTATATTTTATTATAATATAATATAATATATTTTATTATAATATAATAT
TATATTTTATTATAATATAATATTATATTATAATATAATATAATATTGTA
TTATATTTTATTATAATATAATATATTATATTATAATATATTATATTTTA
TTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(191): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATTATATTTTATTATAATATAATATAATATTATATTTTATT
ATAATATAATATTATATTTTATTATAATATAATATTATATTATAATATAA
TATAATATTGTATTATATTTTATTATAATATAATATATTATATTATAAT
1 a0001c0001t0033g0141
a0001c0001t0033g0141
1 HG03225.hp2
HG03225.hp2
intron_variant MODIFIER c.192+78548_192+7854
others(202): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATATAA
TATTATATTTTATTATAATATAATATTATATTATAATATAATATAATATT
GTATTATATTTTATTATAATATAATATATTATATTATAATATATTATATT
TTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(163): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATTATATTTTATTATAATATAATATTATATTTTATTATAAT
ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA
TATAATATATTATATTATAAT
33 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
others(30): Show 
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
33 HG00639.hp2
HG01109.hp2
HG01243.hp1
others(30): Show 
HG00639.hp2
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78548_192+7854
others(174): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATTATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA
TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATA
TTATATTATAATATATTATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(203): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATTATATTTTATTATAATATAATATTATATTTTATTATAAT
ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA
TATAATATATTATATTATAATATATTATATTTTATTATAATATAATATAT
TATATTATAAT
1 a0001c0001t0014g0048
a0001c0001t0014g0048
1 HG02723.hp1
HG02723.hp1
intron_variant MODIFIER c.192+78548_192+7854
others(214): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATTATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA
TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATA
TTATATTATAATATATTATATTTTATTATAATATAATATATTATATTATA
ATATATTATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(160): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATTATATTTTATTATAATATAATATTATATTTTATTATAAT
ATAATATTATATTATAATATAATATATTGTATTATATTTTATTATAATAT
AATATATTATATTATAAT
1 a0001c0002t0002g0075
a0001c0002t0002g0075
1 NA19009.hp2
NA19009.hp2
intron_variant MODIFIER c.192+78548_192+7854
others(171): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATTATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA
TATTATAATATAATATATTGTATTATATTTTATTATAATATAATATATTA
TATTATAATATATTATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(163): Show 
AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA
TAATATAATATTTTATTATAATATAATATTATATTTTATTATAATATAAT
ATTATATTATAATATAATATAATATTGTATTATATTTTATTATAATATAA
TATATTATATTTTATTATAAT
1 a0001c0001t0007g0126
a0001c0001t0007g0126
1 HG02155.hp2
HG02155.hp2
intron_variant MODIFIER c.192+78548_192+7854
others(174): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATTTTATTATAATATAATATTATATTTTATTATAATATAATATTATATTA
TAATATAATATAATATTGTATTATATTTTATTATAATATAATATATTATA
TTTTATTATAATATATTATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(160): Show 
AATATTATATTTTATTATAATATAATATATTATATTTTATTATAATATAA
TATAATATAATATTTTATTATAATATAATATTATATTTTATTATAATATA
ATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAATAT
AATATATTATATTATAAT
1 a0001c0002t0002g0095
a0001c0002t0002g0095
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.192+78544_192+7854
others(171): Show 
c.192+78544_192+78545insTTATATTTTATTATAATATAATATAA
TATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATT
ATATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATAT
ATTATATTATAATATATTATATTTTATTATAATATAATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423193 A
A
AATATTAT
others(84): Show 
AATATTATATTTTATTATAATATAATATTATATTATAATATAATATAATA
TTGTATTATATTTTATTATAATATAATATATTATATTATAAT
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.192+78543_192+7854
others(95): Show 
c.192+78543_192+78544insTATATTATAATATAATATAATATTGT
ATTATATTTTATTATAATATAATATATTATATTATAATATATTATATTTT
ATTATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423193
chr5:156423194 ATAT
ATAT
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78521_192+7852
others(7): Show 
c.192+78521_192+78523delTAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423194
chr5:156423197 T
T
TTATATTT
others(153): Show 
TTATATTTTATTATAATATAATATAATATTATATTTTATTATAATATAAT
ATAATATAATATTTTATTATAATATAATATTATATTTTATTATAATATAA
TATTATATTATAATATAATATAATATTGTATTATATTATATTATAATATA
ATATATTATAA
6 a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
others(3): Show 
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0043g0139
6 HG01070.hp2
HG01169.hp1
HG02630.hp1
others(3): Show 
HG01070.hp2
HG01169.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.192+78548_192+7854
others(164): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA
TATTATAATATAATATAATATTGTATTATATTATATTATAATATAATATA
TTATAATATATTTTATTATAATATAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423197
chr5:156423215 T
T
TAATATAA
others(168): Show 
TAATATAATATTATATTTTATTATAATATAATATAATATAATATTTTATT
ATAATATAATATTATATTTTATTATAATATAATATTATATTATAATATAA
TATAATATTGTATTATATTTTATTATAATATAATATATTATATTTTATTA
TAATATATTATATTTTATTATAATAA
1 a0001c0001t0001g0122
a0001c0001t0001g0122
1 HG02083.hp2
HG02083.hp2
intron_variant MODIFIER c.192+78548_192+7854
others(179): Show 
c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT
ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA
TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATA
TTATATTTTATTATAATATATTATATTTTATTATAATAAAATATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423215
chr5:156423223 T
T
TATTATAT
others(37): Show 
TATTATATTATAATATAATATAATATTATATTTTATTATAATATA
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78548_192+7854
others(48): Show 
c.192+78548_192+78549insTATATTATAATATAATATAATATTAT
ATTTTATTATAATATAAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423223
chr5:156423229 G
G
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78552G>A
c.192+78552G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423229
chr5:156423229 G
G
GTAT
GTAT
7 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03453.hp1
NA18522.hp1
intron_variant MODIFIER c.192+78556_192+7855
others(7): Show 
c.192+78556_192+78558dupTAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423229
chr5:156423229 G
G
T
T
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.192+78552G>T
c.192+78552G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423229
chr5:156423234 A
A
ATAATATA
others(155): Show 
ATAATATAATATAATATAATATTTTATTATAATATAATATTATATTTTAT
TATAATATAATATTATATTATAATATAATATAATATTGTATTATATTTTA
TTATAATATAATATATTATATTATAATATATTATATTTTATTATAATATA
ATATAATATATTG
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.192+78559_192+7856
others(166): Show 
c.192+78559_192+78560insATATAATATAATATAATATTTTATTA
TAATATAATATTATATTTTATTATAATATAATATTATATTATAATATAAT
ATAATATTGTATTATATTTTATTATAATATAATATATTATATTATAATAT
ATTATATTTTATTATAATATAATATAATATATTGTA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423234
chr5:156423238 T
T
TATA
TATA
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78562_192+7856
others(7): Show 
c.192+78562_192+78564dupATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423238
chr5:156423243 T
T
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78566T>A
c.192+78566T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423243
chr5:156423244 T
T
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78567T>A
c.192+78567T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423244
chr5:156423273 C
C
T
T
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78596C>T
c.192+78596C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423273
chr5:156423277 A
A
ATATTTTA
others(39): Show 
ATATTTTATTATAATATAATATTATATTATAATATAATATAATATTG
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78604_192+7860
others(50): Show 
c.192+78604_192+78605insTTATTATAATATAATATTATATTATA
ATATAATATAATATTGTATT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423277
chr5:156423300 A
A
T
T
4 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0004t0001g0009
others(1): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0004t0001g0009
a0001c0004t0017g0007
4 HG02622.hp1
HG02630.hp2
HG02922.hp1
others(1): Show 
HG02622.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.192+78623A>T
c.192+78623A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423300
chr5:156423307 T
T
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78630T>A
c.192+78630T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423307
chr5:156423310 T
T
TTTTATTA
others(3): Show 
TTTTATTATAA
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78634_192+7863
others(14): Show 
c.192+78634_192+78635insTTATTATAAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423310
chr5:156423327 T
T
A
A
7 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03453.hp1
NA18522.hp1
intron_variant MODIFIER c.192+78650T>A
c.192+78650T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423327
chr5:156423327 T
T
G
G
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78650T>G
c.192+78650T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423327
chr5:156423327 T
T
TTATTATA
others(53): Show 
TTATTATAATATAATATATTTTATTATAATATAATATATTTTATTATAAT
ATAATATATTA
1 a0001c0002t0008g0076
a0001c0002t0008g0076
1 NA19010.hp1
NA19010.hp1
intron_variant MODIFIER c.192+78669_192+7867
others(64): Show 
c.192+78669_192+78670insTTATTATAATATAATATATTTTATTA
TAATATAATATATTATATTATAATATAATATATT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423327
chr5:156423327 T
T
TTATTATA
others(73): Show 
TTATTATAATATAATATATTTTATTATAATATAATATATTTTATTATAAT
ATAATATATTTTATTATAATATAATATATTA
4 a0001c0001t0031g0021
a0001c0002t0002g0093
a0001c0002t0002g0107
others(1): Show 
a0001c0001t0031g0021
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0008g0101
4 HG01978.hp2
HG02129.hp1
NA18953.hp2
others(1): Show 
HG01978.hp2
HG02129.hp1
NA18953.hp2
NA18959.hp2
intron_variant MODIFIER c.192+78669_192+7867
others(84): Show 
c.192+78669_192+78670insTTATTATAATATAATATATTTTATTA
TAATATAATATATTTTATTATAATATAATATATTATATTATAATATAATA
TATT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423327
chr5:156423327 T
T
TTATTATA
others(93): Show 
TTATTATAATATAATATATTTTATTATAATATAATATATTTTATTATAAT
ATAATATATTTTATTATAATATAATATATTTTATTATAATATAATATATT
A
4 a0001c0001t0026g0016
a0001c0002t0002g0061
a0001c0002t0004g0113
others(1): Show 
a0001c0001t0026g0016
a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0023g0112
4 HG01071.hp2
HG02698.hp2
HG03098.hp1
others(1): Show 
HG01071.hp2
HG02698.hp2
HG03098.hp1
HG03486.hp2
intron_variant MODIFIER c.192+78669_192+7867
others(104): Show 
c.192+78669_192+78670insTTATTATAATATAATATATTTTATTA
TAATATAATATATTTTATTATAATATAATATATTTTATTATAATATAATA
TATTATATTATAATATAATATATT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423327
chr5:156423332 A
A
T
T
7 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03453.hp1
NA18522.hp1
intron_variant MODIFIER c.192+78655A>T
c.192+78655A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423332
chr5:156423334 A
A
T
T
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78657A>T
c.192+78657A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423334
chr5:156423335 A
A
T
T
7 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03453.hp1
NA18522.hp1
intron_variant MODIFIER c.192+78658A>T
c.192+78658A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423335
chr5:156423339 A
A
T
T
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78662A>T
c.192+78662A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423339
chr5:156423339 AAT
AAT
A
A
66 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(63): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0004c0007t0020g0012
66 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(63): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.192+78667_192+7866
others(6): Show 
c.192+78667_192+78668delAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423339
chr5:156423340 ATATATTA
others(9): Show 
ATATATTATAATTTTAT
A
A
7 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03453.hp1
NA18522.hp1
intron_variant MODIFIER c.192+78668_192+7868
others(20): Show 
c.192+78668_192+78683delTTATAATTTTATTATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423340
chr5:156423341 T
T
TATATTTT
others(11): Show 
TATATTTTATTATAATATA
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.192+78669_192+7867
others(22): Show 
c.192+78669_192+78670insTTATTATAATATAATATT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423341
chr5:156423344 A
A
T
T
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78667A>T
c.192+78667A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423344
chr5:156423346 TA
TA
T
T
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0014g0048
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
34 HG00639.hp2
HG01109.hp2
HG01256.hp1
others(31): Show 
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78670delA
c.192+78670delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423346
chr5:156423347 A
A
T
T
1 a0001c0001t0009g0049
a0001c0001t0009g0049
1 HG03139.hp2
HG03139.hp2
intron_variant MODIFIER c.192+78670A>T
c.192+78670A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423347
chr5:156423349 A
A
AATAT
AATAT
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78674_192+7867
others(8): Show 
c.192+78674_192+78675insATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423349
chr5:156423349 A
A
ATTATAAT
others(27): Show 
ATTATAATATAATATATTTTATTATAATATAATAT
1 a0001c0001t0009g0049
a0001c0001t0009g0049
1 HG03139.hp2
HG03139.hp2
intron_variant MODIFIER c.192+78672_192+7867
others(38): Show 
c.192+78672_192+78673insTTATAATATAATATATTTTATTATAA
TATAATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423349
chr5:156423349 A
A
T
T
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0014g0048
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
34 HG00639.hp2
HG01109.hp2
HG01256.hp1
others(31): Show 
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78672A>T
c.192+78672A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423349
chr5:156423353 T
T
A
A
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0014g0048
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
34 HG00639.hp2
HG01109.hp2
HG01256.hp1
others(31): Show 
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78676T>A
c.192+78676T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423353
chr5:156423356 T
T
A
A
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0014g0048
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
34 HG00639.hp2
HG01109.hp2
HG01256.hp1
others(31): Show 
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78679T>A
c.192+78679T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423356
chr5:156423364 T
T
TAAC
TAAC
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78688_192+7868
others(7): Show 
c.192+78688_192+78689insACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423364
chr5:156423365 A
A
T
T
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0014g0048
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
34 HG00639.hp2
HG01109.hp2
HG01256.hp1
others(31): Show 
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78688A>T
c.192+78688A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423365
chr5:156423366 T
T
A
A
36 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(33): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
36 HG00639.hp2
HG01109.hp2
HG01256.hp1
others(33): Show 
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78689T>A
c.192+78689T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423366
chr5:156423368 AT
AT
A
A
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0014g0048
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
34 HG00639.hp2
HG01109.hp2
HG01256.hp1
others(31): Show 
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78692delT
c.192+78692delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423368
chr5:156423372 T
T
A
A
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.192+78695T>A
c.192+78695T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423372
chr5:156423373 T
T
A
A
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0002g0095
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03239.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78696T>A
c.192+78696T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423373
chr5:156423374 T
T
A
A
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.192+78697T>A
c.192+78697T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423374
chr5:156423376 T
T
A
A
2 a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0009g0036
a0001c0001t0018g0039
2 HG02895.hp1
NA19030.hp2
HG02895.hp1
NA19030.hp2
intron_variant MODIFIER c.192+78699T>A
c.192+78699T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423376
chr5:156423378 A
A
T
T
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0044g0026
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78701A>T
c.192+78701A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423378
chr5:156423381 A
A
T
T
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0044g0026
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78704A>T
c.192+78704A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423381
chr5:156423386 A
A
T
T
35 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
35 HG00639.hp2
HG01109.hp2
HG01256.hp1
others(32): Show 
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78709A>T
c.192+78709A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423386
chr5:156423391 T
T
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78714T>A
c.192+78714T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423391
chr5:156423393 A
A
T
T
35 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
35 HG00639.hp2
HG01109.hp2
HG01256.hp1
others(32): Show 
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78716A>T
c.192+78716A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423393
chr5:156423398 T
T
A
A
43 a0001c0001t0001g0008
a0001c0001t0001g0045
a0001c0001t0001g0050
others(40): Show 
a0001c0001t0001g0008
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0053g0085
a0001c0002t0056g0096
a0001c0002t0059g0002
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
a0003c0005t0001g0148
43 HG00639.hp2
HG01109.hp2
HG01243.hp2
others(40): Show 
HG00639.hp2
HG01109.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03453.hp1
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78721T>A
c.192+78721T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423398
chr5:156423401 T
T
A
A
107 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(104): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
107 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(104): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78724T>A
c.192+78724T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423401
chr5:156423404 TAATATAA
others(18): Show 
TAATATAATATATTATATTTTAATAA
T
T
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.192+78741_192+7876
others(29): Show 
c.192+78741_192+78765delATATTTTAATAAAATATAATATATT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156423404
chr5:156423407 T
T
G
G
1 a0001c0002t0056g0096
a0001c0002t0056g0096
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.192+78730T>G
c.192+78730T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423407
chr5:156423416 T
T
A
A
1 a0001c0002t0054g0073
a0001c0002t0054g0073
1 NA18990.hp1
NA18990.hp1
intron_variant MODIFIER c.192+78739T>A
c.192+78739T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423416
chr5:156423423 T
T
A
A
1 a0001c0002t0002g0062
a0001c0002t0002g0062
1 HG00558.hp1
HG00558.hp1
intron_variant MODIFIER c.192+78746T>A
c.192+78746T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423423
chr5:156423426 A
A
T
T
116 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(113): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
116 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(113): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78749A>T
c.192+78749A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423426
chr5:156423429 A
A
T
T
116 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(113): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
116 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(113): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78752A>T
c.192+78752A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423429
chr5:156423545 C
C
G
G
15 a0001c0001t0001g0008
a0001c0001t0006g0037
a0001c0001t0006g0038
others(12): Show 
a0001c0001t0001g0008
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
15 HG01243.hp2
HG02258.hp1
HG02258.hp2
others(12): Show 
HG01243.hp2
HG02258.hp1
HG02258.hp2
HG02622.hp1
HG02630.hp2
HG02809.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp1
NA18906.hp1
intron_variant MODIFIER c.192+78868C>G
c.192+78868C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423545
chr5:156423545 C
C
T
T
103 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
103 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(100): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+78868C>T
c.192+78868C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423545
chr5:156423572 T
T
G
G
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+78895T>G
c.192+78895T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423572
chr5:156423854 G
G
A
A
103 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
103 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(100): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+79177G>A
c.192+79177G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156423854
chr5:156424210 A
A
G
G
7 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03453.hp1
NA18522.hp1
intron_variant MODIFIER c.192+79533A>G
c.192+79533A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156424210
chr5:156424229 A
A
G
G
15 a0001c0001t0001g0008
a0001c0001t0006g0037
a0001c0001t0006g0038
others(12): Show 
a0001c0001t0001g0008
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
15 HG01243.hp2
HG02258.hp1
HG02258.hp2
others(12): Show 
HG01243.hp2
HG02258.hp1
HG02258.hp2
HG02622.hp1
HG02630.hp2
HG02809.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp1
NA18906.hp1
intron_variant MODIFIER c.192+79552A>G
c.192+79552A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156424229
chr5:156424241 G
G
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+79564G>A
c.192+79564G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156424241
chr5:156424301 T
T
G
G
103 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
103 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(100): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+79624T>G
c.192+79624T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156424301
chr5:156424435 T
T
C
C
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.192+79758T>C
c.192+79758T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156424435
chr5:156424691 G
G
T
T
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.192+80014G>T
c.192+80014G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156424691
chr5:156424797 C
C
G
G
2 a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0010g0001
a0001c0002t0010g0108
2 NA18990.hp2
NA19002.hp1
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.192+80120C>G
c.192+80120C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156424797
chr5:156424956 G
G
A
A
9 a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
others(6): Show 
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0023g0112
9 HG01071.hp2
HG01978.hp2
HG02129.hp1
others(6): Show 
HG01071.hp2
HG01978.hp2
HG02129.hp1
HG02698.hp2
HG03098.hp1
HG03486.hp2
NA18953.hp2
NA18959.hp2
NA19010.hp1
intron_variant MODIFIER c.192+80279G>A
c.192+80279G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156424956
chr5:156424995 A
A
G
G
1 a0001c0001t0045g0137
a0001c0001t0045g0137
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.192+80318A>G
c.192+80318A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156424995
chr5:156425055 G
G
T
T
103 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
103 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(100): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+80378G>T
c.192+80378G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156425055
chr5:156425056 C
C
T
T
103 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
103 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(100): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+80379C>T
c.192+80379C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156425056
chr5:156425211 T
T
G
G
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.192+80534T>G
c.192+80534T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156425211
chr5:156425305 G
G
A
A
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(115): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+80628G>A
c.192+80628G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156425305
chr5:156425336 A
A
G
G
1 a0001c0001t0001g0025
a0001c0001t0001g0025
1 HG03139.hp1
HG03139.hp1
intron_variant MODIFIER c.192+80659A>G
c.192+80659A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156425336
chr5:156425475 G
G
T
T
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.192+80798G>T
c.192+80798G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156425475
chr5:156425558 G
G
GT
GT
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+80889dupT
c.192+80889dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156425558
chr5:156425740 G
G
A
A
1 a0001c0001t0001g0054
a0001c0001t0001g0054
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.192+81063G>A
c.192+81063G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156425740
chr5:156425797 G
G
A
A
6 a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
others(3): Show 
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0043g0139
6 HG01070.hp2
HG01169.hp1
HG02630.hp1
others(3): Show 
HG01070.hp2
HG01169.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.192+81120G>A
c.192+81120G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156425797
chr5:156425968 T
T
C
C
128 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
128 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(125): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+81291T>C
c.192+81291T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156425968
chr5:156426135 T
T
C
C
2 a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0005g0082
a0001c0002t0005g0097
2 HG03490.hp2
NA20805.hp2
HG03490.hp2
NA20805.hp2
intron_variant MODIFIER c.192+81458T>C
c.192+81458T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156426135
chr5:156426238 T
T
C
C
1 a0001c0001t0018g0039
a0001c0001t0018g0039
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.192+81561T>C
c.192+81561T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156426238
chr5:156426295 T
T
C
C
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.192+81618T>C
c.192+81618T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156426295
chr5:156426467 A
A
G
G
119 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(116): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
119 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(116): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.192+81790A>G
c.192+81790A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156426467
chr5:156426498 T
T
G
G
2 a0001c0001t0021g0027
a0001c0001t0048g0053
a0001c0001t0021g0027
a0001c0001t0048g0053
2 HG00639.hp2
HG02965.hp2
HG00639.hp2
HG02965.hp2
intron_variant MODIFIER c.192+81821T>G
c.192+81821T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156426498
chr5:156426663 G
G
A
A
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-81938G>A
c.193-81938G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156426663
chr5:156426778 T
T
C
C
7 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03453.hp1
NA18522.hp1
intron_variant MODIFIER c.193-81823T>C
c.193-81823T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156426778
chr5:156426890 C
C
T
T
19 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0022g0029
a0001c0002t0050g0072
a0001c0002t0052g0111
19 HG01070.hp2
HG01169.hp1
HG02055.hp1
others(16): Show 
HG01070.hp2
HG01169.hp1
HG02055.hp1
HG02055.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.193-81711C>T
c.193-81711C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156426890
chr5:156426975 G
G
A
A
7 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
7 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(4): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.193-81626G>A
c.193-81626G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156426975
chr5:156427385 A
A
C
C
7 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
7 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(4): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.193-81216A>C
c.193-81216A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156427385
chr5:156427476 T
T
C
C
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(115): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-81125T>C
c.193-81125T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156427476
chr5:156427749 G
G
C
C
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-80852G>C
c.193-80852G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156427749
chr5:156427856 C
C
T
T
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(115): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-80745C>T
c.193-80745C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156427856
chr5:156428019 G
G
A
A
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.193-80582G>A
c.193-80582G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156428019
chr5:156428083 T
T
A
A
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.193-80518T>A
c.193-80518T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156428083
chr5:156428161 G
G
A
A
1 a0001c0002t0002g0069
a0001c0002t0002g0069
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.193-80440G>A
c.193-80440G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156428161
chr5:156428244 A
A
C
C
1 a0001c0002t0011g0090
a0001c0002t0011g0090
1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-80357A>C
c.193-80357A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156428244
chr5:156428317 T
T
C
C
5 a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
others(2): Show 
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
5 HG01070.hp2
HG01169.hp1
HG02895.hp2
others(2): Show 
HG01070.hp2
HG01169.hp1
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.193-80284T>C
c.193-80284T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156428317
chr5:156428789 C
C
T
T
3 a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0134
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0134
3 NA18966.hp1
NA18985.hp2
NA19011.hp2
NA18966.hp1
NA18985.hp2
NA19011.hp2
intron_variant MODIFIER c.193-79812C>T
c.193-79812C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156428789
chr5:156428855 T
T
A
A
44 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(41): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
44 HG00639.hp2
HG01109.hp2
HG01243.hp1
others(41): Show 
HG00639.hp2
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02071.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-79746T>A
c.193-79746T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156428855
chr5:156428935 G
G
A
A
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.193-79666G>A
c.193-79666G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156428935
chr5:156428964 A
A
G
G
9 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(6): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0002t0022g0029
a0001c0002t0052g0111
9 HG02055.hp2
HG02717.hp2
HG02895.hp1
others(6): Show 
HG02055.hp2
HG02717.hp2
HG02895.hp1
HG03139.hp1
HG03453.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.193-79637A>G
c.193-79637A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156428964
chr5:156429067 G
G
C
C
131 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(128): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
131 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(128): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-79534G>C
c.193-79534G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156429067
chr5:156429231 A
A
C
C
19 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0022g0029
a0001c0002t0050g0072
a0001c0002t0052g0111
19 HG01070.hp2
HG01169.hp1
HG02055.hp1
others(16): Show 
HG01070.hp2
HG01169.hp1
HG02055.hp1
HG02055.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.193-79370A>C
c.193-79370A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156429231
chr5:156429265 C
C
CT
CT
8 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0002t0028g0034
a0001c0006t0018g0145
8 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(5): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02717.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.193-79319dupT
c.193-79319dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156429265
chr5:156429265 C
C
CTT
CTT
36 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(33): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
36 HG00639.hp2
HG01256.hp1
HG01258.hp1
others(33): Show 
HG00639.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp1
HG01891.hp2
HG01981.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-79320_193-7931
others(6): Show 
c.193-79320_193-79319dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156429265
chr5:156429265 C
C
CTTT
CTTT
10 a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
others(7): Show 
a0001c0001t0001g0008
a0001c0001t0001g0068
a0001c0001t0020g0017
a0001c0001t0042g0065
a0001c0002t0010g0094
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
10 HG01109.hp2
HG01243.hp2
HG02258.hp1
others(7): Show 
HG01109.hp2
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG02922.hp2
HG03453.hp1
NA18522.hp1
NA19010.hp2
intron_variant MODIFIER c.193-79321_193-7931
others(7): Show 
c.193-79321_193-79319dupTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156429265
chr5:156429265 C
C
CTTTT
CTTTT
6 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(3): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0022g0064
a0001c0001t0036g0043
6 HG02258.hp2
HG02809.hp1
HG03041.hp2
others(3): Show 
HG02258.hp2
HG02809.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-79322_193-7931
others(8): Show 
c.193-79322_193-79319dupTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156429265
chr5:156429265 CT
CT
C
C
21 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(18): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0004g0092
a0001c0002t0008g0006
a0001c0002t0010g0005
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0057g0110
21 HG01981.hp2
HG02040.hp1
HG02040.hp2
others(18): Show 
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG03098.hp2
HG03139.hp1
HG03453.hp2
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.193-79319delT
c.193-79319delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156429265
chr5:156429265 CTT
CTT
C
C
6 a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
others(3): Show 
a0001c0001t0003g0056
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0002t0050g0072
6 HG01070.hp2
HG01169.hp1
HG02055.hp1
others(3): Show 
HG01070.hp2
HG01169.hp1
HG02055.hp1
HG02895.hp2
HG02897.hp1
HG03225.hp1
intron_variant MODIFIER c.193-79320_193-7931
others(6): Show 
c.193-79320_193-79319delTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156429265
chr5:156429362 A
A
G
G
7 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03453.hp1
NA18522.hp1
intron_variant MODIFIER c.193-79239A>G
c.193-79239A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156429362
chr5:156429451 A
A
C
C
2 a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0129
a0001c0001t0005g0130
2 NA19009.hp1
NA19057.hp2
NA19009.hp1
NA19057.hp2
intron_variant MODIFIER c.193-79150A>C
c.193-79150A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156429451
chr5:156429528 G
G
A
A
103 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
103 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(100): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-79073G>A
c.193-79073G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156429528
chr5:156429576 GT
GT
G
G
16 a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
others(13): Show 
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0043g0139
16 HG01070.hp1
HG01070.hp2
HG01169.hp1
others(13): Show 
HG01070.hp1
HG01070.hp2
HG01169.hp1
HG02258.hp2
HG02630.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-79012delT
c.193-79012delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156429576
chr5:156429937 C
C
G
G
2 a0001c0001t0021g0027
a0001c0001t0048g0053
a0001c0001t0021g0027
a0001c0001t0048g0053
2 HG00639.hp2
HG02965.hp2
HG00639.hp2
HG02965.hp2
intron_variant MODIFIER c.193-78664C>G
c.193-78664C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156429937
chr5:156429970 T
T
A
A
119 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(116): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
119 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(116): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-78631T>A
c.193-78631T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156429970
chr5:156430135 C
C
G
G
104 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(101): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
104 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(101): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-78466C>G
c.193-78466C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156430135
chr5:156430178 A
A
C
C
1 a0001c0001t0003g0018
a0001c0001t0003g0018
1 HG03490.hp1
HG03490.hp1
intron_variant MODIFIER c.193-78423A>C
c.193-78423A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156430178
chr5:156430187 T
T
C
C
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.193-78414T>C
c.193-78414T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156430187
chr5:156430204 C
C
A
A
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.193-78397C>A
c.193-78397C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156430204
chr5:156430206 G
G
T
T
119 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(116): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
119 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(116): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-78395G>T
c.193-78395G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156430206
chr5:156430264 G
G
A
A
7 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03453.hp1
NA18522.hp1
intron_variant MODIFIER c.193-78337G>A
c.193-78337G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156430264
chr5:156430360 T
T
C
C
128 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
128 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(125): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-78241T>C
c.193-78241T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156430360
chr5:156430392 T
T
A
A
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.193-78209T>A
c.193-78209T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156430392
chr5:156430623 C
C
T
T
2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
2 HG02055.hp2
HG02717.hp2
HG02055.hp2
HG02717.hp2
intron_variant MODIFIER c.193-77978C>T
c.193-77978C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156430623
chr5:156430687 C
C
T
T
20 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(17): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0022g0029
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0057g0110
20 HG01070.hp2
HG01169.hp1
HG02055.hp1
others(17): Show 
HG01070.hp2
HG01169.hp1
HG02055.hp1
HG02055.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.193-77914C>T
c.193-77914C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156430687
chr5:156430972 G
G
A
A
1 a0001c0002t0052g0111
a0001c0002t0052g0111
1 HG03453.hp2
HG03453.hp2
intron_variant MODIFIER c.193-77629G>A
c.193-77629G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156430972
chr5:156431218 T
T
C
C
104 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(101): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
104 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(101): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-77383T>C
c.193-77383T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156431218
chr5:156431256 G
G
A
A
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(115): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-77345G>A
c.193-77345G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156431256
chr5:156431517 G
G
A
A
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.193-77084G>A
c.193-77084G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156431517
chr5:156431518 C
C
T
T
1 a0001c0002t0051g0099
a0001c0002t0051g0099
1 NA19066.hp2
NA19066.hp2
intron_variant MODIFIER c.193-77083C>T
c.193-77083C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156431518
chr5:156431777 G
G
A
A
7 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03453.hp1
NA18522.hp1
intron_variant MODIFIER c.193-76824G>A
c.193-76824G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156431777
chr5:156431941 T
T
C
C
15 a0001c0001t0001g0008
a0001c0001t0006g0037
a0001c0001t0006g0038
others(12): Show 
a0001c0001t0001g0008
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0053g0085
a0001c0004t0001g0009
a0001c0004t0017g0007
15 HG01243.hp2
HG02258.hp1
HG02258.hp2
others(12): Show 
HG01243.hp2
HG02258.hp1
HG02258.hp2
HG02622.hp1
HG02630.hp2
HG02809.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp1
NA18906.hp1
intron_variant MODIFIER c.193-76660T>C
c.193-76660T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156431941
chr5:156432344 G
G
A
A
3 a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
3 NA18990.hp2
NA19002.hp1
NA19010.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.193-76257G>A
c.193-76257G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156432344
chr5:156432358 T
T
C
C
111 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(108): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
111 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(108): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-76243T>C
c.193-76243T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156432358
chr5:156432971 T
T
C
C
1 a0001c0004t0017g0007
a0001c0004t0017g0007
1 HG02630.hp2
HG02630.hp2
intron_variant MODIFIER c.193-75630T>C
c.193-75630T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156432971
chr5:156433018 C
C
A
A
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-75583C>A
c.193-75583C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156433018
chr5:156433213 A
A
G
G
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.193-75388A>G
c.193-75388A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156433213
chr5:156433300 G
G
T
T
9 a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
others(6): Show 
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0023g0112
9 HG01071.hp2
HG01978.hp2
HG02129.hp1
others(6): Show 
HG01071.hp2
HG01978.hp2
HG02129.hp1
HG02698.hp2
HG03098.hp1
HG03486.hp2
NA18953.hp2
NA18959.hp2
NA19010.hp1
intron_variant MODIFIER c.193-75301G>T
c.193-75301G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156433300
chr5:156433495 G
G
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-75106G>A
c.193-75106G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156433495
chr5:156433560 T
T
C
C
6 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(3): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
6 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(3): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-75041T>C
c.193-75041T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156433560
chr5:156433945 T
T
A
A
1 a0001c0002t0008g0006
a0001c0002t0008g0006
1 HG02040.hp1
HG02040.hp1
intron_variant MODIFIER c.193-74656T>A
c.193-74656T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156433945
chr5:156434075 C
C
T
T
9 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(6): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0002t0008g0105
9 HG02083.hp2
HG02155.hp2
NA18966.hp1
others(6): Show 
HG02083.hp2
HG02155.hp2
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-74526C>T
c.193-74526C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156434075
chr5:156434307 T
T
A
A
6 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(3): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
6 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(3): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-74294T>A
c.193-74294T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156434307
chr5:156434308 T
T
A
A
6 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(3): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
6 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(3): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-74293T>A
c.193-74293T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156434308
chr5:156434391 A
A
G
G
45 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(42): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
45 HG00639.hp2
HG01109.hp2
HG01243.hp1
others(42): Show 
HG00639.hp2
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-74210A>G
c.193-74210A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156434391
chr5:156434430 C
C
A
A
58 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(55): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
58 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(55): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.193-74171C>A
c.193-74171C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156434430
chr5:156434430 C
C
G
G
6 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(3): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
6 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(3): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-74171C>G
c.193-74171C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156434430
chr5:156434438 T
T
G
G
9 a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
others(6): Show 
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0023g0112
9 HG01071.hp2
HG01978.hp2
HG02129.hp1
others(6): Show 
HG01071.hp2
HG01978.hp2
HG02129.hp1
HG02698.hp2
HG03098.hp1
HG03486.hp2
NA18953.hp2
NA18959.hp2
NA19010.hp1
intron_variant MODIFIER c.193-74163T>G
c.193-74163T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156434438
chr5:156434577 A
A
G
G
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.193-74024A>G
c.193-74024A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156434577
chr5:156434616 G
G
A
A
6 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
others(3): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
6 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(3): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-73985G>A
c.193-73985G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156434616
chr5:156434634 G
G
A
A
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.193-73967G>A
c.193-73967G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156434634
chr5:156434701 C
C
T
T
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.193-73900C>T
c.193-73900C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156434701
chr5:156434954 A
A
C
C
4 a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0015g0078
others(1): Show 
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0015g0078
a0001c0002t0059g0002
4 HG02155.hp1
NA18959.hp1
NA18966.hp2
others(1): Show 
HG02155.hp1
NA18959.hp1
NA18966.hp2
NA19009.hp2
intron_variant MODIFIER c.193-73647A>C
c.193-73647A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156434954
chr5:156435215 G
G
A
A
50 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(47): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0042g0065
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
50 HG00639.hp2
HG01109.hp2
HG01243.hp1
others(47): Show 
HG00639.hp2
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp1
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-73386G>A
c.193-73386G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156435215
chr5:156435226 C
C
T
T
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-73375C>T
c.193-73375C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156435226
chr5:156435227 G
G
A
A
3 a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0037g0042
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0037g0042
3 HG02895.hp1
NA19030.hp2
NA19043.hp2
HG02895.hp1
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.193-73374G>A
c.193-73374G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156435227
chr5:156435491 TTGAC
TTGAC
T
T
19 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0022g0029
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0057g0110
19 HG01070.hp2
HG01169.hp1
HG02055.hp1
others(16): Show 
HG01070.hp2
HG01169.hp1
HG02055.hp1
HG02055.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.193-73107_193-7310
others(8): Show 
c.193-73107_193-73104delACTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156435491
chr5:156435612 A
A
G
G
1 a0001c0001t0001g0052
a0001c0001t0001g0052
1 HG02257.hp2
HG02257.hp2
intron_variant MODIFIER c.193-72989A>G
c.193-72989A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156435612
chr5:156435917 C
C
T
T
1 a0001c0002t0002g0087
a0001c0002t0002g0087
1 NA19057.hp1
NA19057.hp1
intron_variant MODIFIER c.193-72684C>T
c.193-72684C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156435917
chr5:156436175 A
A
G
G
1 a0001c0002t0013g0030
a0001c0002t0013g0030
1 HG02970.hp2
HG02970.hp2
intron_variant MODIFIER c.193-72426A>G
c.193-72426A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156436175
chr5:156436241 G
G
A
A
61 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(58): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
61 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(58): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.193-72360G>A
c.193-72360G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156436241
chr5:156436693 A
A
C
C
62 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(59): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
62 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(59): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.193-71908A>C
c.193-71908A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156436693
chr5:156436752 A
A
G
G
2 a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0009g0067
a0001c0001t0021g0027
2 HG02723.hp2
HG02965.hp2
HG02723.hp2
HG02965.hp2
intron_variant MODIFIER c.193-71849A>G
c.193-71849A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156436752
chr5:156436836 C
C
A
A
59 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(56): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.193-71765C>A
c.193-71765C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156436836
chr5:156436851 A
A
G
G
1 a0001c0002t0004g0113
a0001c0002t0004g0113
1 HG01071.hp2
HG01071.hp2
intron_variant MODIFIER c.193-71750A>G
c.193-71750A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156436851
chr5:156436900 A
A
G
G
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-71701A>G
c.193-71701A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156436900
chr5:156436942 G
G
C
C
126 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
126 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(123): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-71659G>C
c.193-71659G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156436942
chr5:156437059 C
C
T
T
7 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
7 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(4): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.193-71542C>T
c.193-71542C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156437059
chr5:156437101 A
A
G
G
7 a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0020g0017
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03486.hp1
NA18522.hp1
intron_variant MODIFIER c.193-71500A>G
c.193-71500A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156437101
chr5:156437287 G
G
C
C
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-71314G>C
c.193-71314G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156437287
chr5:156437457 C
C
T
T
40 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(37): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
40 HG00639.hp2
HG01109.hp2
HG01243.hp1
others(37): Show 
HG00639.hp2
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp1
NA18966.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-71144C>T
c.193-71144C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156437457
chr5:156437583 T
T
C
C
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-71018T>C
c.193-71018T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156437583
chr5:156437686 C
C
A
A
4 a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0004t0001g0009
others(1): Show 
a0001c0001t0001g0008
a0001c0001t0020g0017
a0001c0004t0001g0009
a0001c0004t0017g0007
4 HG02622.hp1
HG02630.hp2
HG02922.hp1
others(1): Show 
HG02622.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-70915C>A
c.193-70915C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156437686
chr5:156437753 G
G
A
A
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-70848G>A
c.193-70848G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156437753
chr5:156437858 T
T
C
C
126 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(123): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
126 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(123): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-70743T>C
c.193-70743T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156437858
chr5:156437876 C
C
T
T
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.193-70725C>T
c.193-70725C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156437876
chr5:156438046 G
G
A
A
10 a0001c0002t0002g0069
a0001c0002t0002g0080
a0001c0002t0002g0098
others(7): Show 
a0001c0002t0002g0069
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0008g0006
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
10 HG01981.hp2
HG02040.hp1
HG02040.hp2
others(7): Show 
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
intron_variant MODIFIER c.193-70555G>A
c.193-70555G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156438046
chr5:156438073 T
T
C
C
7 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
7 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(4): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.193-70528T>C
c.193-70528T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156438073
chr5:156438259 G
G
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.193-70342G>T
c.193-70342G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156438259
chr5:156438270 G
G
A
A
2 a0001c0001t0027g0011
a0001c0002t0022g0029
a0001c0001t0027g0011
a0001c0002t0022g0029
2 NA19030.hp1
NA20300.hp2
NA19030.hp1
NA20300.hp2
intron_variant MODIFIER c.193-70331G>A
c.193-70331G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156438270
chr5:156438424 T
T
C
C
9 a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
others(6): Show 
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0002t0002g0061
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0023g0112
9 HG01071.hp2
HG01978.hp2
HG02129.hp1
others(6): Show 
HG01071.hp2
HG01978.hp2
HG02129.hp1
HG02698.hp2
HG03098.hp1
HG03486.hp2
NA18953.hp2
NA18959.hp2
NA19010.hp1
intron_variant MODIFIER c.193-70177T>C
c.193-70177T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156438424
chr5:156438711 A
A
G
G
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-69890A>G
c.193-69890A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156438711
chr5:156438764 C
C
G
G
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.193-69837C>G
c.193-69837C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156438764
chr5:156439159 G
G
A
A
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.193-69442G>A
c.193-69442G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156439159
chr5:156439160 G
G
A
A
57 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
57 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(54): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02145.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.193-69441G>A
c.193-69441G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156439160
chr5:156439186 C
C
A
A
3 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0002t0022g0029
a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0002t0022g0029
3 HG03139.hp1
NA20129.hp2
NA20300.hp2
HG03139.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.193-69415C>A
c.193-69415C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156439186
chr5:156439243 G
G
A
A
57 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
57 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(54): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02145.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.193-69358G>A
c.193-69358G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156439243
chr5:156439339 C
C
A
A
117 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(114): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
117 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(114): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-69262C>A
c.193-69262C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156439339
chr5:156439646 T
T
TTTTAACC
others(1): Show 
TTTTAACCA
7 a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0020g0017
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG01243.hp2
HG02258.hp1
HG02622.hp1
others(4): Show 
HG01243.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03486.hp1
NA18522.hp1
intron_variant MODIFIER c.193-68953_193-6894
others(12): Show 
c.193-68953_193-68946dupTTAACCAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156439646
chr5:156439659 A
A
G
G
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(115): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-68942A>G
c.193-68942A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156439659
chr5:156439704 G
G
T
T
1 a0001c0002t0002g0093
a0001c0002t0002g0093
1 NA18953.hp2
NA18953.hp2
intron_variant MODIFIER c.193-68897G>T
c.193-68897G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156439704
chr5:156439724 T
T
C
C
68 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(65): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0004c0007t0020g0012
68 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(65): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-68877T>C
c.193-68877T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156439724
chr5:156439774 C
C
T
T
3 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0002t0022g0029
a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0002t0022g0029
3 HG03139.hp1
NA20129.hp2
NA20300.hp2
HG03139.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.193-68827C>T
c.193-68827C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156439774
chr5:156440099 G
G
A
A
6 a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0027g0011
others(3): Show 
a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0046g0121
a0004c0007t0020g0012
6 HG01261.hp2
HG01516.hp2
HG02056.hp1
others(3): Show 
HG01261.hp2
HG01516.hp2
HG02056.hp1
HG02129.hp2
HG03490.hp1
NA19030.hp1
intron_variant MODIFIER c.193-68502G>A
c.193-68502G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156440099
chr5:156440142 T
T
C
C
118 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(115): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
118 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(115): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-68459T>C
c.193-68459T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156440142
chr5:156440335 A
A
G
G
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.193-68266A>G
c.193-68266A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156440335
chr5:156440417 G
G
A
A
54 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(51): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0042g0065
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
54 HG00639.hp2
HG01109.hp2
HG01243.hp1
others(51): Show 
HG00639.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG01981.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-68184G>A
c.193-68184G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156440417
chr5:156440418 C
C
T
T
61 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(58): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0004c0007t0020g0012
61 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(58): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18906.hp2
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-68183C>T
c.193-68183C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156440418
chr5:156440419 G
G
A
A
1 a0001c0002t0056g0096
a0001c0002t0056g0096
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.193-68182G>A
c.193-68182G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156440419
chr5:156440449 A
A
G
G
117 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(114): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
117 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(114): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-68152A>G
c.193-68152A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156440449
chr5:156441273 G
G
A
A
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.193-67328G>A
c.193-67328G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156441273
chr5:156441331 A
A
AT
AT
83 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(80): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(80): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01081.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-67268dupT
c.193-67268dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156441331
chr5:156441334 A
A
C
C
43 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(40): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
43 HG00558.hp2
HG00639.hp1
HG01081.hp1
others(40): Show 
HG00558.hp2
HG00639.hp1
HG01081.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02897.hp2
HG02965.hp1
HG03130.hp2
HG03239.hp1
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18953.hp1
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-67267A>C
c.193-67267A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156441334
chr5:156441432 G
G
A
A
87 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(84): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
87 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(84): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01081.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-67169G>A
c.193-67169G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156441432
chr5:156442466 T
T
A
A
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.193-66135T>A
c.193-66135T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156442466
chr5:156442518 C
C
T
T
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-66083C>T
c.193-66083C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156442518
chr5:156442634 A
A
G
G
13 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(10): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0053g0085
13 HG00558.hp1
HG01891.hp1
HG02056.hp2
others(10): Show 
HG00558.hp1
HG01891.hp1
HG02056.hp2
HG02083.hp2
HG02155.hp2
HG03453.hp1
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-65967A>G
c.193-65967A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156442634
chr5:156442855 G
G
A
A
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.193-65746G>A
c.193-65746G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156442855
chr5:156442983 A
A
T
T
5 a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
others(2): Show 
a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
5 HG01243.hp2
HG02258.hp1
HG02630.hp2
others(2): Show 
HG01243.hp2
HG02258.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-65618A>T
c.193-65618A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156442983
chr5:156443012 G
G
A
A
5 a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
others(2): Show 
a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
5 HG01243.hp2
HG02258.hp1
HG02630.hp2
others(2): Show 
HG01243.hp2
HG02258.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-65589G>A
c.193-65589G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156443012
chr5:156443236 T
T
C
C
58 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0116
others(55): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0150
a0001c0001t0003g0056
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0077
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0104
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0008g0105
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0004t0001g0009
a0001c0004t0017g0007
58 HG00558.hp1
HG01070.hp2
HG01071.hp2
others(55): Show 
HG00558.hp1
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG01243.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.193-65365T>C
c.193-65365T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156443236
chr5:156443237 G
G
A
A
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.193-65364G>A
c.193-65364G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156443237
chr5:156443269 G
G
T
T
1 a0001c0002t0055g0091
a0001c0002t0055g0091
1 HG00558.hp2
HG00558.hp2
intron_variant MODIFIER c.193-65332G>T
c.193-65332G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156443269
chr5:156443363 C
C
G
G
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.193-65238C>G
c.193-65238C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156443363
chr5:156443412 A
A
G
G
130 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
130 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(127): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.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
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-65189A>G
c.193-65189A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156443412
chr5:156443416 G
G
A
A
1 a0001c0002t0056g0096
a0001c0002t0056g0096
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.193-65185G>A
c.193-65185G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156443416
chr5:156443460 G
G
T
T
2 a0001c0001t0046g0121
a0004c0007t0020g0012
a0001c0001t0046g0121
a0004c0007t0020g0012
2 HG01261.hp2
HG01516.hp2
HG01261.hp2
HG01516.hp2
intron_variant MODIFIER c.193-65141G>T
c.193-65141G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156443460
chr5:156443489 G
G
A
A
2 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0003g0056
a0001c0001t0014g0055
2 HG01070.hp2
HG01169.hp1
HG01070.hp2
HG01169.hp1
intron_variant MODIFIER c.193-65112G>A
c.193-65112G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156443489
chr5:156443598 G
G
A
A
1 a0001c0002t0011g0051
a0001c0002t0011g0051
1 HG02071.hp2
HG02071.hp2
intron_variant MODIFIER c.193-65003G>A
c.193-65003G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156443598
chr5:156443814 C
C
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.193-64787C>T
c.193-64787C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156443814
chr5:156444064 T
T
TTC
TTC
8 a0001c0001t0001g0015
a0001c0001t0001g0058
a0001c0002t0002g0098
others(5): Show 
a0001c0001t0001g0015
a0001c0001t0001g0058
a0001c0002t0002g0098
a0001c0002t0004g0114
a0001c0002t0010g0005
a0001c0002t0011g0084
a0001c0002t0015g0081
a0001c0002t0054g0073
8 HG01243.hp2
HG01261.hp1
HG02129.hp2
others(5): Show 
HG01243.hp2
HG01261.hp1
HG02129.hp2
HG02559.hp2
NA18953.hp1
NA18964.hp1
NA18990.hp1
NA19003.hp2
intron_variant MODIFIER c.193-64486_193-6448
others(6): Show 
c.193-64486_193-64485dupTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 T
T
TTCTC
TTCTC
9 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(6): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0029g0024
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0080
a0001c0002t0010g0094
a0001c0006t0018g0145
9 HG01261.hp2
HG02040.hp2
HG02145.hp1
others(6): Show 
HG01261.hp2
HG02040.hp2
HG02145.hp1
HG02257.hp1
HG03098.hp2
HG03579.hp1
NA19010.hp2
NA19043.hp1
NA20129.hp1
intron_variant MODIFIER c.193-64488_193-6448
others(8): Show 
c.193-64488_193-64485dupTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 T
T
TTCTCTC
TTCTCTC
3 a0001c0001t0034g0118
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0001t0034g0118
a0001c0002t0004g0088
a0001c0002t0004g0092
3 HG00639.hp1
HG01256.hp2
NA18964.hp2
HG00639.hp1
HG01256.hp2
NA18964.hp2
intron_variant MODIFIER c.193-64490_193-6448
others(10): Show 
c.193-64490_193-64485dupTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 T
T
TTCTCTCT
others(1): Show 
TTCTCTCTC
2 a0001c0002t0004g0079
a0001c0002t0057g0110
a0001c0002t0004g0079
a0001c0002t0057g0110
2 NA18906.hp2
NA20300.hp1
NA18906.hp2
NA20300.hp1
intron_variant MODIFIER c.193-64492_193-6448
others(12): Show 
c.193-64492_193-64485dupTCTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 T
T
TTCTCTCT
others(3): Show 
TTCTCTCTCTC
5 a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0002t0013g0030
others(2): Show 
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0033
5 HG01109.hp2
HG02970.hp2
HG03130.hp1
others(2): Show 
HG01109.hp2
HG02970.hp2
HG03130.hp1
NA18522.hp2
NA19240.hp1
intron_variant MODIFIER c.193-64494_193-6448
others(14): Show 
c.193-64494_193-64485dupTCTCTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 T
T
TTCTCTCT
others(5): Show 
TTCTCTCTCTCTC
3 a0001c0001t0001g0045
a0001c0001t0014g0048
a0001c0002t0010g0108
a0001c0001t0001g0045
a0001c0001t0014g0048
a0001c0002t0010g0108
3 HG02723.hp1
NA19002.hp1
NA19002.hp2
HG02723.hp1
NA19002.hp1
NA19002.hp2
intron_variant MODIFIER c.193-64496_193-6448
others(16): Show 
c.193-64496_193-64485dupTCTCTCTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 T
T
TTCTCTCT
others(7): Show 
TTCTCTCTCTCTCTC
2 a0001c0001t0009g0049
a0001c0002t0028g0034
a0001c0001t0009g0049
a0001c0002t0028g0034
2 HG02717.hp1
HG03139.hp2
HG02717.hp1
HG03139.hp2
intron_variant MODIFIER c.193-64498_193-6448
others(18): Show 
c.193-64498_193-64485dupTCTCTCTCTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 T
T
TTCTCTCT
others(13): Show 
TTCTCTCTCTCTCTCTCTCTC
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.193-64504_193-6448
others(24): Show 
c.193-64504_193-64485dupTCTCTCTCTCTCTCTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 TTC
TTC
T
T
9 a0001c0001t0001g0147
a0001c0001t0003g0018
a0001c0001t0003g0125
others(6): Show 
a0001c0001t0001g0147
a0001c0001t0003g0018
a0001c0001t0003g0125
a0001c0001t0007g0126
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0008g0115
a0001c0002t0011g0051
a0004c0007t0020g0012
9 HG01081.hp2
HG01516.hp1
HG01516.hp2
others(6): Show 
HG01081.hp2
HG01516.hp1
HG01516.hp2
HG02071.hp2
HG02155.hp2
HG02615.hp2
HG03490.hp1
NA18985.hp1
NA19240.hp2
intron_variant MODIFIER c.193-64486_193-6448
others(6): Show 
c.193-64486_193-64485delTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 TTCTC
TTCTC
T
T
10 a0001c0001t0001g0054
a0001c0001t0003g0119
a0001c0001t0005g0129
others(7): Show 
a0001c0001t0001g0054
a0001c0001t0003g0119
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0134
a0001c0001t0030g0135
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0008g0105
a0002c0003t0003g0140
10 HG00558.hp1
HG01891.hp1
HG02559.hp1
others(7): Show 
HG00558.hp1
HG01891.hp1
HG02559.hp1
HG02622.hp2
HG02735.hp2
HG03239.hp2
NA18985.hp2
NA19009.hp1
NA19057.hp2
NA19090.hp1
intron_variant MODIFIER c.193-64488_193-6448
others(8): Show 
c.193-64488_193-64485delTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 TTCTCTC
TTCTCTC
T
T
7 a0001c0001t0007g0124
a0001c0001t0007g0138
a0001c0001t0027g0011
others(4): Show 
a0001c0001t0007g0124
a0001c0001t0007g0138
a0001c0001t0027g0011
a0001c0001t0039g0004
a0001c0002t0002g0087
a0001c0002t0004g0104
a0001c0002t0061g0103
7 HG02056.hp2
HG04115.hp1
NA18966.hp1
others(4): Show 
HG02056.hp2
HG04115.hp1
NA18966.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19066.hp1
intron_variant MODIFIER c.193-64490_193-6448
others(10): Show 
c.193-64490_193-64485delTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 TTCTCTCT
others(1): Show 
TTCTCTCTC
T
T
3 a0001c0001t0007g0123
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0001t0007g0123
a0001c0001t0016g0144
a0001c0001t0033g0141
3 HG01243.hp1
HG03225.hp2
NA19011.hp2
HG01243.hp1
HG03225.hp2
NA19011.hp2
intron_variant MODIFIER c.193-64492_193-6448
others(12): Show 
c.193-64492_193-64485delTCTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 TTCTCTCT
others(3): Show 
TTCTCTCTCTC
T
T
2 a0001c0001t0001g0023
a0001c0002t0024g0100
a0001c0001t0001g0023
a0001c0002t0024g0100
2 HG01258.hp1
HG03704.hp2
HG01258.hp1
HG03704.hp2
intron_variant MODIFIER c.193-64494_193-6448
others(14): Show 
c.193-64494_193-64485delTCTCTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 TTCTCTCT
others(5): Show 
TTCTCTCTCTCTC
T
T
5 a0001c0001t0001g0019
a0001c0001t0001g0122
a0001c0001t0003g0013
others(2): Show 
a0001c0001t0001g0019
a0001c0001t0001g0122
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0002t0053g0085
5 HG01081.hp1
HG02083.hp2
HG02897.hp2
others(2): Show 
HG01081.hp1
HG02083.hp2
HG02897.hp2
HG03453.hp1
NA20805.hp1
intron_variant MODIFIER c.193-64496_193-6448
others(16): Show 
c.193-64496_193-64485delTCTCTCTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444064 TTCTCTCT
others(7): Show 
TTCTCTCTCTCTCTC
T
T
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.193-64498_193-6448
others(18): Show 
c.193-64498_193-64485delTCTCTCTCTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444064
chr5:156444083 T
T
C
C
1 a0002c0003t0017g0014
a0002c0003t0017g0014
1 HG04115.hp2
HG04115.hp2
intron_variant MODIFIER c.193-64518T>C
c.193-64518T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444083
chr5:156444086 CTCTCTCT
others(20): Show 
CTCTCTCTCTCTCTCTCTCTCTCTCTCT
C
C
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-64514_193-6448
others(31): Show 
c.193-64514_193-64488delTCTCTCTCTCTCTCTCTCTCTCTCTC
T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444086
chr5:156444090 CTCTCTCT
others(16): Show 
CTCTCTCTCTCTCTCTCTCTCTCT
C
C
1 a0001c0001t0001g0117
a0001c0001t0001g0117
1 HG02717.hp2
HG02717.hp2
intron_variant MODIFIER c.193-64510_193-6448
others(27): Show 
c.193-64510_193-64488delTCTCTCTCTCTCTCTCTCTCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444090
chr5:156444094 CTCTCTCT
others(12): Show 
CTCTCTCTCTCTCTCTCTCT
C
C
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.193-64506_193-6448
others(23): Show 
c.193-64506_193-64488delTCTCTCTCTCTCTCTCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444094
chr5:156444096 CTCTCTCT
others(10): Show 
CTCTCTCTCTCTCTCTCT
C
C
1 a0001c0002t0002g0093
a0001c0002t0002g0093
1 NA18953.hp2
NA18953.hp2
intron_variant MODIFIER c.193-64504_193-6448
others(21): Show 
c.193-64504_193-64488delTCTCTCTCTCTCTCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444096
chr5:156444097 TCTCTCTC
others(13): Show 
TCTCTCTCTCTCTCTCTCTCC
T
T
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.193-64502_193-6448
others(24): Show 
c.193-64502_193-64483delTCTCTCTCTCTCTCTCTCCC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444097
chr5:156444098 CTCTCTCT
others(8): Show 
CTCTCTCTCTCTCTCT
C
C
3 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0025g0035
3 HG02055.hp2
HG03139.hp1
NA20129.hp2
HG02055.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.193-64502_193-6448
others(19): Show 
c.193-64502_193-64488delTCTCTCTCTCTCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444098
chr5:156444100 CTCTCTCT
others(6): Show 
CTCTCTCTCTCTCT
C
C
11 a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0041g0028
others(8): Show 
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0041g0028
a0001c0002t0002g0061
a0001c0002t0002g0077
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0059g0002
11 HG01071.hp2
HG01978.hp2
HG02055.hp1
others(8): Show 
HG01071.hp2
HG01978.hp2
HG02055.hp1
HG02129.hp1
HG02615.hp1
HG02698.hp2
HG03098.hp1
HG03486.hp2
NA18959.hp1
NA18966.hp2
NA19010.hp1
intron_variant MODIFIER c.193-64500_193-6448
others(17): Show 
c.193-64500_193-64488delTCTCTCTCTCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444100
chr5:156444101 TCTCTCTC
others(9): Show 
TCTCTCTCTCTCTCTCC
T
T
4 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0020g0017
others(1): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0020g0017
a0001c0001t0036g0043
4 HG02258.hp2
HG02622.hp1
HG02809.hp1
others(1): Show 
HG02258.hp2
HG02622.hp1
HG02809.hp1
NA18906.hp1
intron_variant MODIFIER c.193-64498_193-6448
others(20): Show 
c.193-64498_193-64483delTCTCTCTCTCTCTCCC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444101
chr5:156444102 CTCTCTCT
others(4): Show 
CTCTCTCTCTCT
C
C
10 a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
others(7): Show 
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0037g0042
a0001c0002t0052g0111
10 HG01070.hp2
HG01169.hp1
HG02723.hp2
others(7): Show 
HG01070.hp2
HG01169.hp1
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03453.hp2
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.193-64498_193-6448
others(15): Show 
c.193-64498_193-64488delTCTCTCTCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444102
chr5:156444105 TCTCTCTC
others(5): Show 
TCTCTCTCTCTCC
T
T
5 a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
others(2): Show 
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0042g0065
5 HG02922.hp2
HG02970.hp1
HG03041.hp2
others(2): Show 
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03579.hp2
intron_variant MODIFIER c.193-64494_193-6448
others(16): Show 
c.193-64494_193-64483delTCTCTCTCTCCC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444105
chr5:156444106 CTCTCTCT
others(33): Show 
CTCTCTCTCTCCCCTTCCCTCTCTCTCTCTCTCCTTCCCTT
C
C
1 a0001c0002t0056g0096
a0001c0002t0056g0096
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.193-64483_193-6444
others(44): Show 
c.193-64483_193-64444delCCTTCCCTCTCTCTCTCTCTCCTTCC
CTTTCTCTCTCTCC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444106
chr5:156444107 TCTCTCTC
others(3): Show 
TCTCTCTCTCC
T
T
3 a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
3 HG02630.hp2
HG02922.hp1
NA18522.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-64492_193-6448
others(14): Show 
c.193-64492_193-64483delTCTCTCTCCC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444107
chr5:156444108 CTCTCTCT
others(31): Show 
CTCTCTCTCCCCTTCCCTCTCTCTCTCTCTCCTTCCCTT
C
C
2 a0001c0001t0003g0136
a0001c0002t0015g0086
a0001c0001t0003g0136
a0001c0002t0015g0086
2 HG02698.hp1
HG02809.hp2
HG02698.hp1
HG02809.hp2
intron_variant MODIFIER c.193-64484_193-6444
others(42): Show 
c.193-64484_193-64447delCCCTTCCCTCTCTCTCTCTCTCCTTC
CCTTTCTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444108
chr5:156444109 TCTCTCTC
others(7): Show 
TCTCTCTCCCCTTCC
T
T
2 a0001c0001t0038g0044
a0002c0003t0017g0014
a0001c0001t0038g0044
a0002c0003t0017g0014
2 HG02083.hp1
HG04115.hp2
HG02083.hp1
HG04115.hp2
intron_variant MODIFIER c.193-64484_193-6447
others(18): Show 
c.193-64484_193-64471delCCCTTCCCTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444109
chr5:156444112 CTCTCCCC
others(27): Show 
CTCTCCCCTTCCCTCTCTCTCTCTCTCCTTCCCTT
C
C
1 a0001c0001t0021g0046
a0001c0001t0021g0046
1 HG01256.hp1
HG01256.hp1
intron_variant MODIFIER c.193-64484_193-6445
others(38): Show 
c.193-64484_193-64451delCCCTTCCCTCTCTCTCTCTCTCCTTC
CCTTTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444112
chr5:156444114 CTCCCCTT
others(19): Show 
CTCCCCTTCCCTCTCTCTCTCTCTCCT
C
C
2 a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0011g0090
a0001c0002t0015g0078
2 HG02155.hp1
homoSapiens_chm13v2.hp1
HG02155.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-64482_193-6445
others(30): Show 
c.193-64482_193-64457delCTTCCCTCTCTCTCTCTCTCCTTCCC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444114
chr5:156444114 CTCCCCTT
others(25): Show 
CTCCCCTTCCCTCTCTCTCTCTCTCCTTCCCTT
C
C
2 a0001c0001t0005g0047
a0001c0002t0002g0075
a0001c0001t0005g0047
a0001c0002t0002g0075
2 HG01258.hp2
NA19009.hp2
HG01258.hp2
NA19009.hp2
intron_variant MODIFIER c.193-64484_193-6445
others(36): Show 
c.193-64484_193-64453delCCCTTCCCTCTCTCTCTCTCTCCTTC
CCTTTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444114
chr5:156444115 TCCCCTTC
others(21): Show 
TCCCCTTCCCTCTCTCTCTCTCTCCTTCC
T
T
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.193-64484_193-6445
others(32): Show 
c.193-64484_193-64457delCCCTTCCCTCTCTCTCTCTCTCCTTC
CC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444115
chr5:156444116 C
C
CT
CT
3 a0001c0001t0035g0127
a0001c0002t0002g0095
a0001c0002t0055g0091
a0001c0001t0035g0127
a0001c0002t0002g0095
a0001c0002t0055g0091
3 HG00558.hp2
HG01169.hp2
HG03239.hp1
HG00558.hp2
HG01169.hp2
HG03239.hp1
intron_variant MODIFIER c.193-64485_193-6448
others(5): Show 
c.193-64485_193-64484insT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444116
chr5:156444116 C
C
CTCT
CTCT
2 a0001c0001t0012g0010
a0001c0002t0008g0006
a0001c0001t0012g0010
a0001c0002t0008g0006
2 HG01981.hp1
HG02040.hp1
HG01981.hp1
HG02040.hp1
intron_variant MODIFIER c.193-64485_193-6448
others(7): Show 
c.193-64485_193-64484insTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444116
chr5:156444116 C
C
CTCTCTCT
others(4): Show 
CTCTCTCTCTCT
1 a0001c0002t0010g0001
a0001c0002t0010g0001
1 NA18990.hp2
NA18990.hp2
intron_variant MODIFIER c.193-64485_193-6448
others(15): Show 
c.193-64485_193-64484insTCTCTCTCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444116
chr5:156444116 C
C
CTCTCTCT
others(8): Show 
CTCTCTCTCTCTCTCT
1 a0001c0002t0002g0109
a0001c0002t0002g0109
1 HG02071.hp1
HG02071.hp1
intron_variant MODIFIER c.193-64485_193-6448
others(19): Show 
c.193-64485_193-64484insTCTCTCTCTCTCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444116
chr5:156444116 C
C
T
T
29 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(26): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0002g0061
a0001c0002t0002g0077
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0059g0002
29 HG01070.hp2
HG01071.hp2
HG01169.hp1
others(26): Show 
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
NA18953.hp2
NA18959.hp1
NA18966.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-64485C>T
c.193-64485C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444116
chr5:156444116 CCCCTTCC
others(23): Show 
CCCCTTCCCTCTCTCTCTCTCTCCTTCCCTT
C
C
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.193-64484_193-6445
others(34): Show 
c.193-64484_193-64455delCCCTTCCCTCTCTCTCTCTCTCCTTC
CCTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444116
chr5:156444117 C
C
T
T
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.193-64484C>T
c.193-64484C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444117
chr5:156444120 TTCC
TTCC
T
T
29 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(26): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0002g0061
a0001c0002t0002g0077
a0001c0002t0002g0093
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0059g0002
29 HG01070.hp2
HG01071.hp2
HG01169.hp1
others(26): Show 
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
NA18953.hp2
NA18959.hp1
NA18966.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-64480_193-6447
others(7): Show 
c.193-64480_193-64478delTCC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444120
chr5:156444138 CCTTCCCT
others(1): Show 
CCTTCCCTT
C
C
3 a0001c0001t0038g0044
a0001c0002t0008g0101
a0002c0003t0017g0014
a0001c0001t0038g0044
a0001c0002t0008g0101
a0002c0003t0017g0014
3 HG02083.hp1
HG04115.hp2
NA18959.hp2
HG02083.hp1
HG04115.hp2
NA18959.hp2
intron_variant MODIFIER c.193-64462_193-6445
others(12): Show 
c.193-64462_193-64455delCTTCCCTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444138
chr5:156444143 C
C
T
T
2 a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0011g0090
a0001c0002t0015g0078
2 HG02155.hp1
homoSapiens_chm13v2.hp1
HG02155.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-64458C>T
c.193-64458C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444143
chr5:156444146 T
T
C
C
3 a0001c0002t0004g0106
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0004g0106
a0001c0002t0011g0090
a0001c0002t0015g0078
3 HG01891.hp2
HG02155.hp1
homoSapiens_chm13v2.hp1
HG01891.hp2
HG02155.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-64455T>C
c.193-64455T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444146
chr5:156444152 C
C
T
T
8 a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0027g0011
others(5): Show 
a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0058g0089
a0004c0007t0020g0012
8 HG01261.hp2
HG01516.hp2
HG02056.hp1
others(5): Show 
HG01261.hp2
HG01516.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG03130.hp2
HG03490.hp1
NA19030.hp1
intron_variant MODIFIER c.193-64449C>T
c.193-64449C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444152
chr5:156444163 TCTCTCTC
others(9): Show 
TCTCTCTCTCTCCTTCC
T
T
5 a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
others(2): Show 
a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
5 HG01243.hp2
HG02258.hp1
HG02630.hp2
others(2): Show 
HG01243.hp2
HG02258.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-64414_193-6439
others(20): Show 
c.193-64414_193-64399delTCTCCTTCCCTCTCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444163
chr5:156444216 ATC
ATC
A
A
5 a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
others(2): Show 
a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
5 HG01243.hp2
HG02258.hp1
HG02630.hp2
others(2): Show 
HG01243.hp2
HG02258.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-64367_193-6436
others(6): Show 
c.193-64367_193-64366delCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156444216
chr5:156444226 C
C
T
T
1 a0001c0002t0002g0093
a0001c0002t0002g0093
1 NA18953.hp2
NA18953.hp2
intron_variant MODIFIER c.193-64375C>T
c.193-64375C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444226
chr5:156444251 T
T
G
G
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.193-64350T>G
c.193-64350T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444251
chr5:156444375 C
C
T
T
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.193-64226C>T
c.193-64226C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444375
chr5:156444778 T
T
A
A
5 a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
others(2): Show 
a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
5 HG01243.hp2
HG02258.hp1
HG02630.hp2
others(2): Show 
HG01243.hp2
HG02258.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-63823T>A
c.193-63823T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444778
chr5:156444787 A
A
G
G
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0053g0085
22 HG00558.hp1
HG01891.hp1
HG02056.hp2
others(19): Show 
HG00558.hp1
HG01891.hp1
HG02056.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-63814A>G
c.193-63814A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444787
chr5:156444903 G
G
A
A
3 a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0037g0042
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0037g0042
3 HG02895.hp1
NA19030.hp2
NA19043.hp2
HG02895.hp1
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.193-63698G>A
c.193-63698G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156444903
chr5:156445141 A
A
G
G
5 a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
others(2): Show 
a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
5 HG01243.hp2
HG02258.hp1
HG02630.hp2
others(2): Show 
HG01243.hp2
HG02258.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-63460A>G
c.193-63460A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156445141
chr5:156445250 T
T
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.193-63351T>C
c.193-63351T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156445250
chr5:156445326 C
C
T
T
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-63275C>T
c.193-63275C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156445326
chr5:156445596 G
G
A
A
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.193-63005G>A
c.193-63005G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156445596
chr5:156446058 C
C
G
G
1 a0001c0002t0002g0095
a0001c0002t0002g0095
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.193-62543C>G
c.193-62543C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156446058
chr5:156446273 T
T
C
C
13 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(10): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0053g0085
13 HG00558.hp1
HG01891.hp1
HG02056.hp2
others(10): Show 
HG00558.hp1
HG01891.hp1
HG02056.hp2
HG02083.hp2
HG02155.hp2
HG03453.hp1
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-62328T>C
c.193-62328T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156446273
chr5:156446345 G
G
C
C
4 a0001c0001t0001g0025
a0001c0001t0001g0150
a0001c0001t0025g0035
others(1): Show 
a0001c0001t0001g0025
a0001c0001t0001g0150
a0001c0001t0025g0035
a0001c0002t0022g0029
4 HG03139.hp1
HG03486.hp1
NA20129.hp2
others(1): Show 
HG03139.hp1
HG03486.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.193-62256G>C
c.193-62256G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156446345
chr5:156446524 T
T
C
C
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-62077T>C
c.193-62077T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156446524
chr5:156446619 C
C
T
T
1 a0001c0001t0003g0125
a0001c0001t0003g0125
1 HG01081.hp2
HG01081.hp2
intron_variant MODIFIER c.193-61982C>T
c.193-61982C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156446619
chr5:156446620 G
G
A
A
2 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0050
a0001c0001t0001g0052
2 HG02257.hp2
NA18522.hp2
HG02257.hp2
NA18522.hp2
intron_variant MODIFIER c.193-61981G>A
c.193-61981G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156446620
chr5:156446648 A
A
G
G
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-61953A>G
c.193-61953A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156446648
chr5:156446791 G
G
A
A
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-61810G>A
c.193-61810G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156446791
chr5:156446813 T
T
A
A
3 a0001c0001t0001g0150
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0001g0150
a0001c0001t0041g0028
a0001c0002t0050g0072
3 HG02055.hp1
HG02615.hp1
HG03486.hp1
HG02055.hp1
HG02615.hp1
HG03486.hp1
intron_variant MODIFIER c.193-61788T>A
c.193-61788T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156446813
chr5:156446912 G
G
T
T
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-61689G>T
c.193-61689G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156446912
chr5:156447093 G
G
A
A
81 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
others(78): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0075
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
81 HG00558.hp1
HG00639.hp2
HG01070.hp2
others(78): Show 
HG00558.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp1
HG01891.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18959.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-61508G>A
c.193-61508G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156447093
chr5:156447120 C
C
T
T
1 a0001c0002t0013g0032
a0001c0002t0013g0032
1 HG03130.hp1
HG03130.hp1
intron_variant MODIFIER c.193-61481C>T
c.193-61481C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156447120
chr5:156447301 C
C
T
T
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.193-61300C>T
c.193-61300C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156447301
chr5:156447321 G
G
A
A
81 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
others(78): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0075
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
81 HG00558.hp1
HG00639.hp2
HG01070.hp2
others(78): Show 
HG00558.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp1
HG01891.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18959.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-61280G>A
c.193-61280G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156447321
chr5:156447408 T
T
C
C
4 a0001c0001t0001g0045
a0001c0002t0010g0001
a0001c0002t0010g0094
others(1): Show 
a0001c0001t0001g0045
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
4 NA18990.hp2
NA19002.hp1
NA19002.hp2
others(1): Show 
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
intron_variant MODIFIER c.193-61193T>C
c.193-61193T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156447408
chr5:156447547 A
A
G
G
3 a0001c0002t0013g0030
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0013g0030
a0001c0002t0019g0031
a0001c0002t0019g0033
3 HG02970.hp2
HG03041.hp1
NA19240.hp1
HG02970.hp2
HG03041.hp1
NA19240.hp1
intron_variant MODIFIER c.193-61054A>G
c.193-61054A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156447547
chr5:156447577 G
G
A
A
2 a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0014g0132
a0001c0001t0016g0120
2 HG01070.hp1
HG01071.hp1
HG01070.hp1
HG01071.hp1
intron_variant MODIFIER c.193-61024G>A
c.193-61024G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156447577
chr5:156447621 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-60980G>A
c.193-60980G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156447621
chr5:156447679 C
C
T
T
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-60922C>T
c.193-60922C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156447679
chr5:156447931 T
T
G
G
1 a0001c0001t0007g0126
a0001c0001t0007g0126
1 HG02155.hp2
HG02155.hp2
intron_variant MODIFIER c.193-60670T>G
c.193-60670T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156447931
chr5:156448057 G
G
A
A
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-60544G>A
c.193-60544G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448057
chr5:156448114 C
C
T
T
5 a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
others(2): Show 
a0001c0001t0001g0008
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
5 HG01243.hp2
HG02258.hp1
HG02630.hp2
others(2): Show 
HG01243.hp2
HG02258.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-60487C>T
c.193-60487C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448114
chr5:156448219 C
C
A
A
30 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0116
others(27): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0052g0111
a0001c0002t0057g0110
a0001c0004t0001g0009
a0001c0004t0017g0007
30 HG00639.hp2
HG01070.hp2
HG01071.hp2
others(27): Show 
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG01243.hp2
HG01981.hp1
HG02055.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03453.hp2
HG03486.hp2
NA18522.hp1
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.193-60382C>A
c.193-60382C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448219
chr5:156448220 C
C
T
T
15 a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0021g0046
others(12): Show 
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
15 HG01256.hp1
HG01258.hp2
HG01891.hp2
others(12): Show 
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02083.hp1
HG02155.hp1
HG02698.hp1
HG02735.hp1
HG02809.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18959.hp2
NA19009.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-60381C>T
c.193-60381C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448220
chr5:156448375 A
A
T
T
93 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
others(90): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
93 HG00558.hp1
HG00639.hp2
HG01070.hp2
others(90): Show 
HG00558.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp1
HG01891.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18959.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-60226A>T
c.193-60226A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448375
chr5:156448452 T
T
A
A
5 a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
others(2): Show 
a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
5 HG01109.hp2
HG02970.hp2
HG03041.hp1
others(2): Show 
HG01109.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
NA19240.hp1
intron_variant MODIFIER c.193-60149T>A
c.193-60149T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448452
chr5:156448519 G
G
A
A
93 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
others(90): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
93 HG00558.hp1
HG00639.hp2
HG01070.hp2
others(90): Show 
HG00558.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp1
HG01891.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18959.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-60082G>A
c.193-60082G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448519
chr5:156448642 G
G
A
A
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-59959G>A
c.193-59959G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448642
chr5:156448710 G
G
A
A
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-59891G>A
c.193-59891G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448710
chr5:156448731 C
C
CT
CT
16 a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0143
others(13): Show 
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0009g0067
a0001c0001t0027g0011
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0002t0002g0070
a0001c0002t0055g0091
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0006t0018g0145
a0003c0005t0001g0148
16 HG00558.hp2
HG01109.hp1
HG02055.hp2
others(13): Show 
HG00558.hp2
HG01109.hp1
HG02055.hp2
HG02145.hp1
HG02257.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02723.hp2
HG02735.hp1
HG03579.hp1
HG04115.hp1
NA18959.hp1
NA18985.hp1
NA19011.hp1
NA19030.hp1
intron_variant MODIFIER c.193-59842dupT
c.193-59842dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156448731
chr5:156448731 C
C
CTT
CTT
28 a0001c0001t0001g0008
a0001c0001t0001g0050
a0001c0001t0001g0052
others(25): Show 
a0001c0001t0001g0008
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0032
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0050g0072
a0001c0004t0017g0007
a0002c0003t0017g0014
28 HG01071.hp2
HG01109.hp2
HG01256.hp1
others(25): Show 
HG01071.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02257.hp2
HG02630.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG02895.hp1
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03490.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18959.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19240.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-59843_193-5984
others(6): Show 
c.193-59843_193-59842dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156448731
chr5:156448731 C
C
CTTT
CTTT
9 a0001c0001t0001g0045
a0001c0001t0012g0010
a0001c0001t0037g0042
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0012g0010
a0001c0001t0037g0042
a0001c0002t0002g0075
a0001c0002t0013g0030
a0001c0002t0015g0078
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0004t0001g0009
9 HG01981.hp1
HG02155.hp1
HG02922.hp1
others(6): Show 
HG01981.hp1
HG02155.hp1
HG02922.hp1
HG02970.hp2
HG03471.hp2
HG03704.hp1
NA19002.hp2
NA19009.hp2
NA19043.hp2
intron_variant MODIFIER c.193-59844_193-5984
others(7): Show 
c.193-59844_193-59842dupTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156448731
chr5:156448731 CT
CT
C
C
10 a0001c0001t0001g0150
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0001g0150
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0048g0053
a0001c0002t0008g0115
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0057g0110
10 HG00639.hp2
HG01243.hp2
HG01516.hp1
others(7): Show 
HG00639.hp2
HG01243.hp2
HG01516.hp1
HG02258.hp1
HG02622.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03486.hp1
NA18906.hp2
intron_variant MODIFIER c.193-59842delT
c.193-59842delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156448731
chr5:156448731 CTTT
CTTT
C
C
6 a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
others(3): Show 
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
6 HG02809.hp1
HG02970.hp1
HG03041.hp2
others(3): Show 
HG02809.hp1
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
intron_variant MODIFIER c.193-59844_193-5984
others(7): Show 
c.193-59844_193-59842delTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156448731
chr5:156448731 CTTTTTTT
others(1): Show 
CTTTTTTTT
C
C
12 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(9): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0002t0002g0062
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0053g0085
12 HG00558.hp1
HG02056.hp2
HG02083.hp2
others(9): Show 
HG00558.hp1
HG02056.hp2
HG02083.hp2
HG02155.hp2
HG03453.hp1
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-59849_193-5984
others(12): Show 
c.193-59849_193-59842delTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156448731
chr5:156448739 T
T
C
C
2 a0001c0001t0006g0037
a0001c0001t0036g0043
a0001c0001t0006g0037
a0001c0001t0036g0043
2 HG02258.hp2
NA18906.hp1
HG02258.hp2
NA18906.hp1
intron_variant MODIFIER c.193-59862T>C
c.193-59862T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448739
chr5:156448740 T
T
C
C
6 a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
others(3): Show 
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
6 HG02809.hp1
HG02970.hp1
HG03041.hp2
others(3): Show 
HG02809.hp1
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
intron_variant MODIFIER c.193-59861T>C
c.193-59861T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448740
chr5:156448741 T
T
C
C
1 a0001c0001t0042g0065
a0001c0001t0042g0065
1 HG02922.hp2
HG02922.hp2
intron_variant MODIFIER c.193-59860T>C
c.193-59860T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448741
chr5:156448966 C
C
T
T
7 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0006t0018g0145
7 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(4): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.193-59635C>T
c.193-59635C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156448966
chr5:156449194 A
A
G
G
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0053g0085
22 HG00558.hp1
HG01891.hp1
HG02056.hp2
others(19): Show 
HG00558.hp1
HG01891.hp1
HG02056.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-59407A>G
c.193-59407A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449194
chr5:156449301 A
A
G
G
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0150
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
34 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(31): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-59300A>G
c.193-59300A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449301
chr5:156449487 G
G
A
A
64 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(61): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0056g0096
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
64 HG00558.hp1
HG01109.hp2
HG01243.hp1
others(61): Show 
HG00558.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp1
NA18959.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-59114G>A
c.193-59114G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449487
chr5:156449493 A
A
G
G
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-59108A>G
c.193-59108A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449493
chr5:156449569 C
C
A
A
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.193-59032C>A
c.193-59032C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449569
chr5:156449596 C
C
T
T
7 a0001c0001t0001g0008
a0001c0001t0047g0003
a0001c0001t0048g0053
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
7 HG00639.hp2
HG01243.hp2
HG02258.hp1
others(4): Show 
HG00639.hp2
HG01243.hp2
HG02258.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
NA20129.hp1
intron_variant MODIFIER c.193-59005C>T
c.193-59005C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449596
chr5:156449600 A
A
G
G
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-59001A>G
c.193-59001A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449600
chr5:156449677 C
C
CA
CA
20 a0001c0001t0001g0116
a0001c0001t0001g0150
a0001c0001t0003g0119
others(17): Show 
a0001c0001t0001g0116
a0001c0001t0001g0150
a0001c0001t0003g0119
a0001c0001t0009g0067
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0002t0004g0079
a0001c0002t0008g0076
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0057g0110
a0002c0003t0003g0140
20 HG01071.hp1
HG01261.hp2
HG01981.hp2
others(17): Show 
HG01071.hp1
HG01261.hp2
HG01981.hp2
HG02055.hp2
HG02056.hp1
HG02559.hp1
HG02723.hp2
HG02735.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
NA18906.hp2
NA18990.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19066.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
intron_variant MODIFIER c.193-58899dupA
c.193-58899dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156449677
chr5:156449677 C
C
CAAAAAA
CAAAAAA
25 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0143
others(22): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0143
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0056g0096
a0003c0005t0001g0148
25 HG01256.hp1
HG01258.hp2
HG01891.hp2
others(22): Show 
HG01256.hp1
HG01258.hp2
HG01891.hp2
HG02083.hp1
HG02155.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
NA18522.hp2
NA18959.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20805.hp2
intron_variant MODIFIER c.193-58904_193-5889
others(10): Show 
c.193-58904_193-58899dupAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156449677
chr5:156449677 C
C
CAAAAAAA
CAAAAAAA
14 a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
others(11): Show 
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0146
a0001c0001t0016g0144
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0010g0001
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0006t0018g0145
a0002c0003t0017g0014
14 HG01109.hp2
HG01243.hp1
HG01258.hp1
others(11): Show 
HG01109.hp2
HG01243.hp1
HG01258.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02970.hp2
HG03471.hp2
HG04115.hp2
NA18990.hp2
NA19009.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-58905_193-5889
others(11): Show 
c.193-58905_193-58899dupAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156449677
chr5:156449677 CA
CA
C
C
20 a0001c0001t0001g0122
a0001c0001t0005g0130
a0001c0001t0006g0037
others(17): Show 
a0001c0001t0001g0122
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0053g0085
20 HG00558.hp1
HG01891.hp1
HG02056.hp2
others(17): Show 
HG00558.hp1
HG01891.hp1
HG02056.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02809.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp1
HG03579.hp2
NA18906.hp1
NA18985.hp2
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-58899delA
c.193-58899delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156449677
chr5:156449736 T
T
C
C
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0053g0085
22 HG00558.hp1
HG01891.hp1
HG02056.hp2
others(19): Show 
HG00558.hp1
HG01891.hp1
HG02056.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-58865T>C
c.193-58865T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449736
chr5:156449782 T
T
C
C
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0053g0085
22 HG00558.hp1
HG01891.hp1
HG02056.hp2
others(19): Show 
HG00558.hp1
HG01891.hp1
HG02056.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-58819T>C
c.193-58819T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449782
chr5:156449805 A
A
T
T
64 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(61): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0056g0096
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
64 HG00558.hp1
HG01109.hp2
HG01243.hp1
others(61): Show 
HG00558.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp1
NA18959.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-58796A>T
c.193-58796A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449805
chr5:156449806 T
T
G
G
64 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(61): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0056g0096
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
64 HG00558.hp1
HG01109.hp2
HG01243.hp1
others(61): Show 
HG00558.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp1
NA18959.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-58795T>G
c.193-58795T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449806
chr5:156449823 G
G
A
A
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0053g0085
22 HG00558.hp1
HG01891.hp1
HG02056.hp2
others(19): Show 
HG00558.hp1
HG01891.hp1
HG02056.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-58778G>A
c.193-58778G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449823
chr5:156449847 C
C
A
A
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0053g0085
22 HG00558.hp1
HG01891.hp1
HG02056.hp2
others(19): Show 
HG00558.hp1
HG01891.hp1
HG02056.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-58754C>A
c.193-58754C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449847
chr5:156449852 C
C
CA
CA
16 a0001c0001t0001g0025
a0001c0001t0001g0122
a0001c0001t0005g0129
others(13): Show 
a0001c0001t0001g0025
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0029g0024
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0053g0085
a0001c0002t0058g0089
a0004c0007t0020g0012
16 HG00558.hp1
HG01516.hp2
HG01891.hp1
others(13): Show 
HG00558.hp1
HG01516.hp2
HG01891.hp1
HG02056.hp2
HG02083.hp2
HG02145.hp2
HG02155.hp2
HG02723.hp2
HG03098.hp2
HG03139.hp1
HG03453.hp1
NA18985.hp2
NA19009.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-58729dupA
c.193-58729dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156449852
chr5:156449852 C
C
CAA
CAA
11 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(8): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
11 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(8): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA18966.hp1
NA19011.hp2
intron_variant MODIFIER c.193-58730_193-5872
others(6): Show 
c.193-58730_193-58729dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156449852
chr5:156449852 CA
CA
C
C
32 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(29): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
32 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(29): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-58729delA
c.193-58729delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156449852
chr5:156449852 CAA
CAA
C
C
10 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(7): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0006t0018g0145
10 HG01243.hp1
HG02055.hp1
HG02145.hp1
others(7): Show 
HG01243.hp1
HG02055.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02615.hp1
HG03225.hp2
HG03486.hp1
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.193-58730_193-5872
others(6): Show 
c.193-58730_193-58729delAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156449852
chr5:156449883 C
C
T
T
3 a0001c0001t0001g0150
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0001g0150
a0001c0001t0041g0028
a0001c0002t0050g0072
3 HG02055.hp1
HG02615.hp1
HG03486.hp1
HG02055.hp1
HG02615.hp1
HG03486.hp1
intron_variant MODIFIER c.193-58718C>T
c.193-58718C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156449883
chr5:156450077 C
C
G
G
39 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(36): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
39 HG01109.hp2
HG01243.hp1
HG01256.hp1
others(36): Show 
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-58524C>G
c.193-58524C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156450077
chr5:156450323 A
A
G
G
5 a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
others(2): Show 
a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
5 HG01109.hp2
HG02970.hp2
HG03041.hp1
others(2): Show 
HG01109.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
NA19240.hp1
intron_variant MODIFIER c.193-58278A>G
c.193-58278A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156450323
chr5:156450545 A
A
AAAAAG
AAAAAG
34 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(31): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
34 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(31): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02615.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-58046_193-5804
others(9): Show 
c.193-58046_193-58042dupGAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156450545
chr5:156450545 A
A
AAAAG
AAAAG
10 a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
others(7): Show 
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
10 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(7): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-58053_193-5805
others(8): Show 
c.193-58053_193-58052insGAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156450545
chr5:156450638 A
A
G
G
10 a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
others(7): Show 
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
10 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(7): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-57963A>G
c.193-57963A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156450638
chr5:156450756 C
C
G
G
1 a0001c0001t0016g0120
a0001c0001t0016g0120
1 HG01071.hp1
HG01071.hp1
intron_variant MODIFIER c.193-57845C>G
c.193-57845C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156450756
chr5:156450781 T
T
G
G
1 a0001c0001t0016g0120
a0001c0001t0016g0120
1 HG01071.hp1
HG01071.hp1
intron_variant MODIFIER c.193-57820T>G
c.193-57820T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156450781
chr5:156450986 C
C
G
G
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.193-57615C>G
c.193-57615C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156450986
chr5:156451307 G
G
A
A
41 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(38): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0042g0065
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
41 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(38): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp1
NA18959.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-57294G>A
c.193-57294G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156451307
chr5:156451483 A
A
G
G
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.193-57118A>G
c.193-57118A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156451483
chr5:156451608 G
G
C
C
30 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(27): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0008g0101
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
30 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(27): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18959.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-56993G>C
c.193-56993G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156451608
chr5:156451675 T
T
A
A
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.193-56926T>A
c.193-56926T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156451675
chr5:156451806 G
G
C
C
1 a0001c0002t0008g0101
a0001c0002t0008g0101
1 NA18959.hp2
NA18959.hp2
intron_variant MODIFIER c.193-56795G>C
c.193-56795G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156451806
chr5:156452290 G
G
A
A
16 a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0021g0046
others(13): Show 
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
16 HG01256.hp1
HG01258.hp1
HG01258.hp2
others(13): Show 
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01891.hp2
HG02083.hp1
HG02155.hp1
HG02698.hp1
HG02735.hp1
HG02809.hp2
HG03490.hp2
HG03704.hp1
HG04115.hp2
NA18959.hp2
NA19009.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-56311G>A
c.193-56311G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156452290
chr5:156452318 AG
AG
A
A
21 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(18): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0001t0043g0139
a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0057g0110
21 HG01070.hp2
HG01071.hp2
HG01169.hp1
others(18): Show 
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG01981.hp1
HG02055.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03486.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.193-56282delG
c.193-56282delG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156452318
chr5:156452460 A
A
C
C
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-56141A>C
c.193-56141A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156452460
chr5:156452588 T
T
A
A
1 a0001c0002t0008g0101
a0001c0002t0008g0101
1 NA18959.hp2
NA18959.hp2
intron_variant MODIFIER c.193-56013T>A
c.193-56013T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156452588
chr5:156452977 G
G
T
T
13 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(10): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0104
a0001c0002t0008g0105
a0001c0002t0053g0085
13 HG00558.hp1
HG01891.hp1
HG02056.hp2
others(10): Show 
HG00558.hp1
HG01891.hp1
HG02056.hp2
HG02083.hp2
HG02155.hp2
HG03453.hp1
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-55624G>T
c.193-55624G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156452977
chr5:156453217 T
T
C
C
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-55384T>C
c.193-55384T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156453217
chr5:156453239 G
G
A
A
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-55362G>A
c.193-55362G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156453239
chr5:156453291 T
T
C
C
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.193-55310T>C
c.193-55310T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156453291
chr5:156453322 T
T
C
C
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-55279T>C
c.193-55279T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156453322
chr5:156453790 A
A
G
G
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.193-54811A>G
c.193-54811A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156453790
chr5:156453816 A
A
G
G
29 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
others(26): Show 
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
29 HG00639.hp1
HG01109.hp2
HG01256.hp1
others(26): Show 
HG00639.hp1
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02257.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19240.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-54785A>G
c.193-54785A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156453816
chr5:156453862 T
T
C
C
1 a0001c0002t0002g0069
a0001c0002t0002g0069
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.193-54739T>C
c.193-54739T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156453862
chr5:156453949 C
C
A
A
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.193-54652C>A
c.193-54652C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156453949
chr5:156453954 G
G
A
A
11 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(8): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0050g0072
11 HG02055.hp1
HG02258.hp2
HG02615.hp1
others(8): Show 
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-54647G>A
c.193-54647G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156453954
chr5:156454086 T
T
A
A
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-54515T>A
c.193-54515T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156454086
chr5:156454087 A
A
T
T
3 a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
3 NA19030.hp2
NA19043.hp2
NA20129.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-54514A>T
c.193-54514A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156454087
chr5:156454097 G
G
T
T
3 a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
3 NA19030.hp2
NA19043.hp2
NA20129.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-54504G>T
c.193-54504G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156454097
chr5:156454476 G
G
T
T
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.193-54125G>T
c.193-54125G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156454476
chr5:156454638 G
G
C
C
12 a0001c0001t0001g0008
a0001c0001t0001g0058
a0001c0001t0001g0143
others(9): Show 
a0001c0001t0001g0008
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
12 HG01243.hp1
HG01243.hp2
HG02145.hp1
others(9): Show 
HG01243.hp1
HG01243.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02559.hp2
HG02630.hp2
HG02922.hp1
HG03225.hp2
HG03579.hp1
NA18522.hp1
NA19043.hp1
intron_variant MODIFIER c.193-53963G>C
c.193-53963G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156454638
chr5:156454780 G
G
C
C
2 a0001c0002t0002g0069
a0001c0002t0002g0102
a0001c0002t0002g0069
a0001c0002t0002g0102
2 NA19090.hp2
NA19240.hp2
NA19090.hp2
NA19240.hp2
intron_variant MODIFIER c.193-53821G>C
c.193-53821G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156454780
chr5:156454992 A
A
G
G
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.193-53609A>G
c.193-53609A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156454992
chr5:156455029 G
G
T
T
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-53572G>T
c.193-53572G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156455029
chr5:156455069 T
T
C
C
1 a0001c0002t0024g0100
a0001c0002t0024g0100
1 HG01258.hp1
HG01258.hp1
intron_variant MODIFIER c.193-53532T>C
c.193-53532T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156455069
chr5:156455296 T
T
A
A
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.193-53305T>A
c.193-53305T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156455296
chr5:156455383 A
A
C
C
54 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(51): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0017g0014
a0004c0007t0020g0012
54 HG01081.hp1
HG01261.hp2
HG01516.hp1
others(51): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02258.hp2
HG02615.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-53218A>C
c.193-53218A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156455383
chr5:156455449 CT
CT
C
C
130 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
130 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(127): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-53139delT
c.193-53139delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156455449
chr5:156455519 C
C
T
T
2 a0001c0001t0021g0027
a0001c0001t0048g0053
a0001c0001t0021g0027
a0001c0001t0048g0053
2 HG00639.hp2
HG02965.hp2
HG00639.hp2
HG02965.hp2
intron_variant MODIFIER c.193-53082C>T
c.193-53082C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156455519
chr5:156455740 C
C
T
T
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.193-52861C>T
c.193-52861C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156455740
chr5:156455917 C
C
T
T
72 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(69): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0122
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
72 HG00558.hp1
HG00558.hp2
HG00639.hp2
others(69): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02258.hp2
HG02615.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.193-52684C>T
c.193-52684C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156455917
chr5:156456001 G
G
A
A
3 a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
3 NA19030.hp2
NA19043.hp2
NA20129.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-52600G>A
c.193-52600G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156456001
chr5:156456068 C
C
T
T
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-52533C>T
c.193-52533C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156456068
chr5:156456515 C
C
T
T
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-52086C>T
c.193-52086C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156456515
chr5:156456751 A
A
G
G
2 a0001c0001t0018g0039
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0037g0042
2 NA19030.hp2
NA19043.hp2
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.193-51850A>G
c.193-51850A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156456751
chr5:156456759 A
A
T
T
15 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(12): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0092
a0001c0002t0008g0105
a0001c0002t0053g0085
a0001c0002t0055g0091
15 HG00558.hp1
HG00558.hp2
HG01891.hp1
others(12): Show 
HG00558.hp1
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-51842A>T
c.193-51842A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156456759
chr5:156456774 T
T
G
G
1 a0001c0002t0002g0095
a0001c0002t0002g0095
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.193-51827T>G
c.193-51827T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156456774
chr5:156456795 T
T
C
C
1 a0001c0002t0008g0076
a0001c0002t0008g0076
1 NA19010.hp1
NA19010.hp1
intron_variant MODIFIER c.193-51806T>C
c.193-51806T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156456795
chr5:156457108 C
C
T
T
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-51493C>T
c.193-51493C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156457108
chr5:156457193 C
C
T
T
13 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(10): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0050g0072
13 HG01981.hp1
HG02055.hp1
HG02258.hp2
others(10): Show 
HG01981.hp1
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-51408C>T
c.193-51408C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156457193
chr5:156457551 A
A
G
G
4 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0020g0017
others(1): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0020g0017
a0001c0001t0043g0139
4 HG02622.hp1
HG02630.hp1
HG02895.hp2
others(1): Show 
HG02622.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.193-51050A>G
c.193-51050A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156457551
chr5:156457648 G
G
A
A
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.193-50953G>A
c.193-50953G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156457648
chr5:156457707 C
C
T
T
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.193-50894C>T
c.193-50894C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156457707
chr5:156457712 A
A
G
G
37 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
others(34): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0004g0092
a0001c0002t0008g0105
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
37 HG00558.hp1
HG00558.hp2
HG00639.hp2
others(34): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG01981.hp1
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.193-50889A>G
c.193-50889A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156457712
chr5:156457957 A
A
G
G
3 a0001c0002t0002g0087
a0001c0002t0008g0101
a0001c0002t0054g0073
a0001c0002t0002g0087
a0001c0002t0008g0101
a0001c0002t0054g0073
3 NA18959.hp2
NA18990.hp1
NA19057.hp1
NA18959.hp2
NA18990.hp1
NA19057.hp1
intron_variant MODIFIER c.193-50644A>G
c.193-50644A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156457957
chr5:156458459 T
T
C
C
87 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(84): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0004c0007t0020g0012
87 HG00558.hp1
HG00558.hp2
HG00639.hp2
others(84): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG01081.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-50142T>C
c.193-50142T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156458459
chr5:156458553 C
C
G
G
3 a0001c0002t0002g0109
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0002g0109
a0001c0002t0010g0001
a0001c0002t0010g0108
3 HG02071.hp1
NA18990.hp2
NA19002.hp1
HG02071.hp1
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.193-50048C>G
c.193-50048C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156458553
chr5:156458554 C
C
T
T
3 a0001c0001t0049g0149
a0001c0002t0052g0111
a0001c0002t0058g0089
a0001c0001t0049g0149
a0001c0002t0052g0111
a0001c0002t0058g0089
3 HG02145.hp2
HG03130.hp2
HG03453.hp2
HG02145.hp2
HG03130.hp2
HG03453.hp2
intron_variant MODIFIER c.193-50047C>T
c.193-50047C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156458554
chr5:156458607 AT
AT
A
A
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-49991delT
c.193-49991delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156458607
chr5:156458874 T
T
C
C
1 a0001c0002t0011g0090
a0001c0002t0011g0090
1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-49727T>C
c.193-49727T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156458874
chr5:156458921 AT
AT
A
A
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-49673delT
c.193-49673delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156458921
chr5:156459073 A
A
C
C
2 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0058
a0001c0001t0001g0143
2 HG02559.hp2
HG03579.hp1
HG02559.hp2
HG03579.hp1
intron_variant MODIFIER c.193-49528A>C
c.193-49528A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156459073
chr5:156459258 A
A
G
G
117 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(114): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
117 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(114): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01081.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-49343A>G
c.193-49343A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156459258
chr5:156459361 A
A
T
T
1 a0001c0002t0010g0108
a0001c0002t0010g0108
1 NA19002.hp1
NA19002.hp1
intron_variant MODIFIER c.193-49240A>T
c.193-49240A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156459361
chr5:156459587 A
A
T
T
6 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0020g0017
others(3): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0043g0139
a0001c0002t0057g0110
6 HG02622.hp1
HG02630.hp1
HG02895.hp2
others(3): Show 
HG02622.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
NA18906.hp2
intron_variant MODIFIER c.193-49014A>T
c.193-49014A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156459587
chr5:156459730 C
C
A
A
16 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(13): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0050g0072
16 HG01981.hp1
HG02055.hp1
HG02258.hp2
others(13): Show 
HG01981.hp1
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-48871C>A
c.193-48871C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156459730
chr5:156459809 G
G
A
A
3 a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
3 NA19030.hp2
NA19043.hp2
NA20129.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-48792G>A
c.193-48792G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156459809
chr5:156459902 C
C
T
T
2 a0001c0001t0001g0025
a0001c0002t0022g0029
a0001c0001t0001g0025
a0001c0002t0022g0029
2 HG03139.hp1
NA20300.hp2
HG03139.hp1
NA20300.hp2
intron_variant MODIFIER c.193-48699C>T
c.193-48699C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156459902
chr5:156459946 C
C
T
T
2 a0001c0001t0003g0018
a0001c0001t0032g0020
a0001c0001t0003g0018
a0001c0001t0032g0020
2 HG02056.hp1
HG03490.hp1
HG02056.hp1
HG03490.hp1
intron_variant MODIFIER c.193-48655C>T
c.193-48655C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156459946
chr5:156460228 G
G
A
A
10 a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0027g0011
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0052g0111
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
10 HG01261.hp2
HG01516.hp2
HG02056.hp1
others(7): Show 
HG01261.hp2
HG01516.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG03130.hp2
HG03453.hp2
HG03490.hp1
NA18959.hp1
NA19030.hp1
intron_variant MODIFIER c.193-48373G>A
c.193-48373G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156460228
chr5:156460410 A
A
T
T
3 a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
3 NA19030.hp2
NA19043.hp2
NA20129.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-48191A>T
c.193-48191A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156460410
chr5:156460584 A
A
G
G
1 a0001c0001t0007g0126
a0001c0001t0007g0126
1 HG02155.hp2
HG02155.hp2
intron_variant MODIFIER c.193-48017A>G
c.193-48017A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156460584
chr5:156460600 G
G
T
T
3 a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
3 NA19030.hp2
NA19043.hp2
NA20129.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-48001G>T
c.193-48001G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156460600
chr5:156461238 CTTA
CTTA
C
C
3 a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
3 HG02630.hp2
HG02922.hp1
NA18522.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-47358_193-4735
others(7): Show 
c.193-47358_193-47356delTAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156461238
chr5:156461323 T
T
C
C
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-47278T>C
c.193-47278T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156461323
chr5:156461427 A
A
G
G
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-47174A>G
c.193-47174A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156461427
chr5:156461628 C
C
A
A
11 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(8): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0050g0072
11 HG02055.hp1
HG02258.hp2
HG02615.hp1
others(8): Show 
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-46973C>A
c.193-46973C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156461628
chr5:156461655 G
G
A
A
1 a0001c0002t0002g0102
a0001c0002t0002g0102
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.193-46946G>A
c.193-46946G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156461655
chr5:156461678 G
G
T
T
11 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(8): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0050g0072
11 HG02055.hp1
HG02258.hp2
HG02615.hp1
others(8): Show 
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-46923G>T
c.193-46923G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156461678
chr5:156462030 A
A
C
C
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-46571A>C
c.193-46571A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156462030
chr5:156462207 TA
TA
T
T
27 a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0005g0047
others(24): Show 
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
27 HG00639.hp1
HG01109.hp2
HG01256.hp1
others(24): Show 
HG00639.hp1
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03704.hp1
HG04115.hp2
NA18990.hp2
NA19002.hp1
NA19009.hp2
NA19010.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-46392delA
c.193-46392delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156462207
chr5:156462416 G
G
T
T
1 a0001c0002t0004g0113
a0001c0002t0004g0113
1 HG01071.hp2
HG01071.hp2
intron_variant MODIFIER c.193-46185G>T
c.193-46185G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156462416
chr5:156462700 T
T
C
C
1 a0001c0002t0002g0075
a0001c0002t0002g0075
1 NA19009.hp2
NA19009.hp2
intron_variant MODIFIER c.193-45901T>C
c.193-45901T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156462700
chr5:156462881 C
C
A
A
6 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0020g0017
others(3): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0043g0139
a0001c0002t0057g0110
6 HG02622.hp1
HG02630.hp1
HG02895.hp2
others(3): Show 
HG02622.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
NA18906.hp2
intron_variant MODIFIER c.193-45720C>A
c.193-45720C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156462881
chr5:156463137 G
G
GGTTT
GGTTT
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0018g0039
a0001c0001t0037g0042
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0004g0092
a0001c0002t0008g0105
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp1
HG00558.hp2
HG01891.hp1
others(15): Show 
HG00558.hp1
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp2
intron_variant MODIFIER c.193-45442_193-4543
others(8): Show 
c.193-45442_193-45439dupTTTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156463137
chr5:156463189 G
G
A
A
1 a0001c0002t0011g0090
a0001c0002t0011g0090
1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-45412G>A
c.193-45412G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156463189
chr5:156463196 C
C
T
T
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.193-45405C>T
c.193-45405C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156463196
chr5:156463198 T
T
C
C
16 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(13): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0050g0072
16 HG01981.hp1
HG02055.hp1
HG02258.hp2
others(13): Show 
HG01981.hp1
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-45403T>C
c.193-45403T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156463198
chr5:156463292 T
T
C
C
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.193-45309T>C
c.193-45309T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156463292
chr5:156463322 A
A
G
G
79 a0001c0001t0001g0008
a0001c0001t0001g0045
a0001c0001t0001g0050
others(76): Show 
a0001c0001t0001g0008
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0075
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
79 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(76): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp1
HG01891.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-45279A>G
c.193-45279A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156463322
chr5:156463437 G
G
A
A
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.193-45164G>A
c.193-45164G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156463437
chr5:156463490 A
A
G
G
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.193-45111A>G
c.193-45111A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156463490
chr5:156463723 G
G
A
A
2 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0012g0059
a0001c0001t0012g0060
2 HG02895.hp2
HG02897.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.193-44878G>A
c.193-44878G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156463723
chr5:156463799 A
A
G
G
3 a0001c0001t0001g0050
a0001c0001t0021g0027
a0001c0001t0048g0053
a0001c0001t0001g0050
a0001c0001t0021g0027
a0001c0001t0048g0053
3 HG00639.hp2
HG02965.hp2
NA18522.hp2
HG00639.hp2
HG02965.hp2
NA18522.hp2
intron_variant MODIFIER c.193-44802A>G
c.193-44802A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156463799
chr5:156463850 C
C
A
A
11 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(8): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0050g0072
11 HG02055.hp1
HG02258.hp2
HG02615.hp1
others(8): Show 
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-44751C>A
c.193-44751C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156463850
chr5:156463881 A
A
C
C
45 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(42): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0113
a0001c0002t0005g0082
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
45 HG01071.hp2
HG01081.hp1
HG01261.hp2
others(42): Show 
HG01071.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG02055.hp2
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02559.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02897.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.193-44720A>C
c.193-44720A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156463881
chr5:156463896 T
T
C
C
16 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(13): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0050g0072
16 HG01981.hp1
HG02055.hp1
HG02258.hp2
others(13): Show 
HG01981.hp1
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-44705T>C
c.193-44705T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156463896
chr5:156464216 A
A
AT
AT
42 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(39): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0113
a0001c0002t0005g0082
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0023g0112
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
42 HG01071.hp2
HG01081.hp1
HG01261.hp2
others(39): Show 
HG01071.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02559.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02895.hp1
HG02897.hp2
HG03098.hp1
HG03130.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.193-44363dupT
c.193-44363dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156464216
chr5:156464216 A
A
ATT
ATT
7 a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
others(4): Show 
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0002t0008g0076
a0001c0002t0015g0081
7 HG01981.hp1
HG02055.hp2
HG02622.hp2
others(4): Show 
HG01981.hp1
HG02055.hp2
HG02622.hp2
HG02717.hp2
NA19003.hp2
NA19010.hp1
NA19030.hp1
intron_variant MODIFIER c.193-44364_193-4436
others(6): Show 
c.193-44364_193-44363dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156464216
chr5:156464216 A
A
T
T
8 a0001c0001t0006g0037
a0001c0001t0006g0066
a0001c0001t0013g0057
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0050g0072
8 HG02055.hp1
HG02258.hp2
HG02615.hp1
others(5): Show 
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
NA18906.hp1
intron_variant MODIFIER c.193-44385A>T
c.193-44385A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156464216
chr5:156464216 AT
AT
A
A
25 a0001c0001t0001g0008
a0001c0001t0001g0050
a0001c0001t0001g0058
others(22): Show 
a0001c0001t0001g0008
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0023g0071
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0003c0005t0001g0148
25 HG00639.hp2
HG01243.hp1
HG01243.hp2
others(22): Show 
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01981.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02559.hp2
HG02630.hp2
HG02735.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA18964.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19043.hp1
NA20129.hp1
NA20805.hp2
intron_variant MODIFIER c.193-44363delT
c.193-44363delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156464216
chr5:156464331 C
C
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.193-44270C>A
c.193-44270C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156464331
chr5:156464341 C
C
G
G
2 a0001c0001t0018g0039
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0037g0042
2 NA19030.hp2
NA19043.hp2
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.193-44260C>G
c.193-44260C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156464341
chr5:156464456 G
G
A
A
3 a0001c0001t0003g0056
a0001c0001t0009g0067
a0001c0001t0014g0055
a0001c0001t0003g0056
a0001c0001t0009g0067
a0001c0001t0014g0055
3 HG01070.hp2
HG01169.hp1
HG02723.hp2
HG01070.hp2
HG01169.hp1
HG02723.hp2
intron_variant MODIFIER c.193-44145G>A
c.193-44145G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156464456
chr5:156464515 C
C
T
T
1 a0001c0001t0001g0023
a0001c0001t0001g0023
1 HG03704.hp2
HG03704.hp2
intron_variant MODIFIER c.193-44086C>T
c.193-44086C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156464515
chr5:156464730 C
C
T
T
1 a0001c0002t0008g0006
a0001c0002t0008g0006
1 HG02040.hp1
HG02040.hp1
intron_variant MODIFIER c.193-43871C>T
c.193-43871C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156464730
chr5:156464993 G
G
A
A
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.193-43608G>A
c.193-43608G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156464993
chr5:156465125 C
C
T
T
11 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(8): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0002t0050g0072
11 HG02055.hp1
HG02258.hp2
HG02615.hp1
others(8): Show 
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-43476C>T
c.193-43476C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156465125
chr5:156465373 T
T
C
C
2 a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0009g0067
a0001c0001t0021g0027
2 HG02723.hp2
HG02965.hp2
HG02723.hp2
HG02965.hp2
intron_variant MODIFIER c.193-43228T>C
c.193-43228T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156465373
chr5:156465502 G
G
A
A
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.193-43099G>A
c.193-43099G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156465502
chr5:156465502 G
G
C
C
7 a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
others(4): Show 
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0023g0071
a0001c0002t0024g0063
7 HG01981.hp2
HG02040.hp2
HG02071.hp1
others(4): Show 
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
intron_variant MODIFIER c.193-43099G>C
c.193-43099G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156465502
chr5:156465649 C
C
T
T
3 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02615.hp1
NA18906.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-42952C>T
c.193-42952C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156465649
chr5:156465723 G
G
T
T
3 a0001c0002t0002g0087
a0001c0002t0008g0101
a0001c0002t0054g0073
a0001c0002t0002g0087
a0001c0002t0008g0101
a0001c0002t0054g0073
3 NA18959.hp2
NA18990.hp1
NA19057.hp1
NA18959.hp2
NA18990.hp1
NA19057.hp1
intron_variant MODIFIER c.193-42878G>T
c.193-42878G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156465723
chr5:156466557 A
A
G
G
6 a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
others(3): Show 
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0039g0004
6 HG01081.hp1
HG02698.hp1
HG02897.hp2
others(3): Show 
HG01081.hp1
HG02698.hp1
HG02897.hp2
HG03704.hp2
HG04115.hp1
NA20805.hp1
intron_variant MODIFIER c.193-42044A>G
c.193-42044A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156466557
chr5:156466882 T
T
C
C
3 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02615.hp1
NA18906.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-41719T>C
c.193-41719T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156466882
chr5:156466939 G
G
A
A
2 a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0009g0067
a0001c0001t0021g0027
2 HG02723.hp2
HG02965.hp2
HG02723.hp2
HG02965.hp2
intron_variant MODIFIER c.193-41662G>A
c.193-41662G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156466939
chr5:156466955 C
C
T
T
11 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(8): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
11 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(8): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-41646C>T
c.193-41646C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156466955
chr5:156467114 C
C
A
A
1 a0001c0002t0011g0051
a0001c0002t0011g0051
1 HG02071.hp2
HG02071.hp2
intron_variant MODIFIER c.193-41487C>A
c.193-41487C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156467114
chr5:156467274 A
A
G
G
11 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(8): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
11 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(8): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-41327A>G
c.193-41327A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156467274
chr5:156467487 A
A
G
G
7 a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0027g0011
others(4): Show 
a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0002t0059g0002
a0004c0007t0020g0012
7 HG01261.hp2
HG01516.hp2
HG02056.hp1
others(4): Show 
HG01261.hp2
HG01516.hp2
HG02056.hp1
HG02129.hp2
HG03490.hp1
NA18959.hp1
NA19030.hp1
intron_variant MODIFIER c.193-41114A>G
c.193-41114A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156467487
chr5:156467975 A
A
T
T
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-40626A>T
c.193-40626A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156467975
chr5:156468099 A
A
C
C
6 a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
others(3): Show 
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0039g0004
6 HG01081.hp1
HG02698.hp1
HG02897.hp2
others(3): Show 
HG01081.hp1
HG02698.hp1
HG02897.hp2
HG03704.hp2
HG04115.hp1
NA20805.hp1
intron_variant MODIFIER c.193-40502A>C
c.193-40502A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156468099
chr5:156468101 C
C
G
G
75 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
others(72): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0075
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
75 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(72): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-40500C>G
c.193-40500C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156468101
chr5:156468181 T
T
C
C
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-40420T>C
c.193-40420T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156468181
chr5:156468236 G
G
A
A
16 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(13): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0056
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0055
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0029g0024
a0001c0001t0043g0139
a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0022g0029
a0001c0002t0023g0112
16 HG01070.hp2
HG01071.hp2
HG01169.hp1
others(13): Show 
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG02055.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03486.hp2
NA20300.hp2
intron_variant MODIFIER c.193-40365G>A
c.193-40365G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156468236
chr5:156468327 G
G
A
A
5 a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
others(2): Show 
a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
5 HG01109.hp2
HG02970.hp2
HG03041.hp1
others(2): Show 
HG01109.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
NA19240.hp1
intron_variant MODIFIER c.193-40274G>A
c.193-40274G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156468327
chr5:156468341 CA
CA
C
C
31 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0116
others(28): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0150
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0014g0132
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0004g0092
a0001c0002t0004g0113
a0001c0002t0008g0105
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0053g0085
a0001c0002t0055g0091
31 HG00558.hp1
HG00558.hp2
HG01070.hp1
others(28): Show 
HG00558.hp1
HG00558.hp2
HG01070.hp1
HG01071.hp2
HG01891.hp1
HG02055.hp2
HG02083.hp2
HG02155.hp2
HG02717.hp2
HG02723.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03453.hp1
HG03486.hp1
HG03486.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp1
NA20300.hp2
intron_variant MODIFIER c.193-40239delA
c.193-40239delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156468341
chr5:156468341 CAA
CAA
C
C
47 a0001c0001t0001g0008
a0001c0001t0001g0052
a0001c0001t0001g0058
others(44): Show 
a0001c0001t0001g0008
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
47 HG01070.hp2
HG01109.hp2
HG01169.hp1
others(44): Show 
HG01070.hp2
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18990.hp2
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-40240_193-4023
others(6): Show 
c.193-40240_193-40239delAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156468341
chr5:156468341 CAAA
CAAA
C
C
50 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(47): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0005g0082
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0015g0081
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0004c0007t0020g0012
50 HG00639.hp1
HG00639.hp2
HG01081.hp1
others(47): Show 
HG00639.hp1
HG00639.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02258.hp2
HG02615.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.193-40241_193-4023
others(7): Show 
c.193-40241_193-40239delAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156468341
chr5:156468441 A
A
C
C
2 a0001c0001t0018g0039
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0037g0042
2 NA19030.hp2
NA19043.hp2
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.193-40160A>C
c.193-40160A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156468441
chr5:156468869 G
G
A
A
3 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02615.hp1
NA18906.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-39732G>A
c.193-39732G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156468869
chr5:156468928 G
G
A
A
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-39673G>A
c.193-39673G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156468928
chr5:156468948 C
C
T
T
1 a0002c0003t0017g0014
a0002c0003t0017g0014
1 HG04115.hp2
HG04115.hp2
intron_variant MODIFIER c.193-39653C>T
c.193-39653C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156468948
chr5:156468969 A
A
G
G
17 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0001g0150
others(14): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0001g0150
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0002t0002g0062
a0001c0002t0004g0092
a0001c0002t0008g0105
a0001c0002t0053g0085
a0001c0002t0055g0091
17 HG00558.hp1
HG00558.hp2
HG01891.hp1
others(14): Show 
HG00558.hp1
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03486.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp1
intron_variant MODIFIER c.193-39632A>G
c.193-39632A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156468969
chr5:156469117 C
C
T
T
7 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(4): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0022g0029
a0001c0002t0023g0112
7 HG01071.hp2
HG02055.hp2
HG02717.hp2
others(4): Show 
HG01071.hp2
HG02055.hp2
HG02717.hp2
HG03098.hp1
HG03139.hp1
HG03486.hp2
NA20300.hp2
intron_variant MODIFIER c.193-39484C>T
c.193-39484C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156469117
chr5:156469159 C
C
G
G
1 a0001c0001t0031g0021
a0001c0001t0031g0021
1 HG01978.hp2
HG01978.hp2
intron_variant MODIFIER c.193-39442C>G
c.193-39442C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156469159
chr5:156469168 CTG
CTG
C
C
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-39429_193-3942
others(6): Show 
c.193-39429_193-39428delGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156469168
chr5:156469303 C
C
T
T
2 a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0004t0001g0009
a0001c0004t0017g0007
2 HG02630.hp2
HG02922.hp1
HG02630.hp2
HG02922.hp1
intron_variant MODIFIER c.193-39298C>T
c.193-39298C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156469303
chr5:156469353 C
C
A
A
5 a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
others(2): Show 
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
5 HG01081.hp1
HG02698.hp1
HG02897.hp2
others(2): Show 
HG01081.hp1
HG02698.hp1
HG02897.hp2
HG03704.hp2
NA20805.hp1
intron_variant MODIFIER c.193-39248C>A
c.193-39248C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156469353
chr5:156469570 C
C
T
T
3 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02615.hp1
NA18906.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-39031C>T
c.193-39031C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156469570
chr5:156469603 A
A
G
G
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-38998A>G
c.193-38998A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156469603
chr5:156469807 A
A
G
G
57 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
57 HG00639.hp2
HG01081.hp1
HG01261.hp2
others(54): Show 
HG00639.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.193-38794A>G
c.193-38794A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156469807
chr5:156469896 A
A
C
C
3 a0001c0001t0001g0147
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0001g0147
a0001c0001t0009g0036
a0001c0001t0012g0010
3 HG01981.hp1
HG02615.hp2
HG02895.hp1
HG01981.hp1
HG02615.hp2
HG02895.hp1
intron_variant MODIFIER c.193-38705A>C
c.193-38705A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156469896
chr5:156470040 T
T
C
C
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.193-38561T>C
c.193-38561T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156470040
chr5:156470254 G
G
A
A
2 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0003g0056
a0001c0001t0014g0055
2 HG01070.hp2
HG01169.hp1
HG01070.hp2
HG01169.hp1
intron_variant MODIFIER c.193-38347G>A
c.193-38347G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156470254
chr5:156470275 A
A
G
G
3 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02615.hp1
NA18906.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-38326A>G
c.193-38326A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156470275
chr5:156470310 TGATTGTT
others(21): Show 
TGATTGTTACATAATTCATGAAGTTGCTG
T
T
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.193-38290_193-3826
others(32): Show 
c.193-38290_193-38263delGATTGTTACATAATTCATGAAGTTGC
TG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156470310
chr5:156470332 G
G
A
A
10 a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0027g0011
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0052g0111
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
10 HG01261.hp2
HG01516.hp2
HG02056.hp1
others(7): Show 
HG01261.hp2
HG01516.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG03130.hp2
HG03453.hp2
HG03490.hp1
NA18959.hp1
NA19030.hp1
intron_variant MODIFIER c.193-38269G>A
c.193-38269G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156470332
chr5:156470539 T
T
C
C
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-38062T>C
c.193-38062T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156470539
chr5:156470612 C
C
T
T
1 a0001c0002t0002g0107
a0001c0002t0002g0107
1 HG02129.hp1
HG02129.hp1
intron_variant MODIFIER c.193-37989C>T
c.193-37989C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156470612
chr5:156471001 G
G
A
A
21 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(18): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0050g0072
a0001c0002t0057g0110
21 HG00639.hp2
HG01981.hp1
HG02055.hp1
others(18): Show 
HG00639.hp2
HG01981.hp1
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.193-37600G>A
c.193-37600G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156471001
chr5:156471089 A
A
G
G
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-37512A>G
c.193-37512A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156471089
chr5:156471129 G
G
A
A
131 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(128): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
131 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(128): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-37472G>A
c.193-37472G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156471129
chr5:156471149 G
G
C
C
15 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(12): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0050g0072
a0001c0002t0057g0110
15 HG00639.hp2
HG02055.hp1
HG02258.hp2
others(12): Show 
HG00639.hp2
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
intron_variant MODIFIER c.193-37452G>C
c.193-37452G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156471149
chr5:156471250 G
G
T
T
7 a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
others(4): Show 
a0001c0001t0001g0068
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0044g0026
7 HG01109.hp2
HG02717.hp1
HG02970.hp2
others(4): Show 
HG01109.hp2
HG02717.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03471.hp2
NA19240.hp1
intron_variant MODIFIER c.193-37351G>T
c.193-37351G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156471250
chr5:156471426 G
G
A
A
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-37175G>A
c.193-37175G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156471426
chr5:156471706 C
C
T
T
1 a0001c0001t0031g0021
a0001c0001t0031g0021
1 HG01978.hp2
HG01978.hp2
intron_variant MODIFIER c.193-36895C>T
c.193-36895C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156471706
chr5:156471927 A
A
AGACAGTG
others(5602): Show 
AGACAGTGATTTTTATTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTAT
TTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGT
GCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCA
CTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCC
CTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTG
TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGT
GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATCATGGTTTCCAAT
TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC
ATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA
TTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCC
GCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTC
ATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTA
GTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACT
AGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCC
TCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTG
GTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCC
AGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTC
TTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGT
TTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATT
AGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGG
TTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTA
GTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTT
GGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAAT
GCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAAT
CTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCC
AGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATT
AAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGA
TCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTC
CATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTAC
TGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTT
TGTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTC
CATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGG
TAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGG
CCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTC
CATTTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTC
CTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTA
TTCTCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATCTGGCTCTCT
GTTTGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGAT
TTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTT
GGGCTGAGACGATGGGGTTTTCTAGATAAACAATCATGTCATCTGCAAAC
AGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTT
CTCCTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGA
GCGGTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCT
TCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGAT
AGCTCTTATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAG
TTTTTAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCT
ATTGAGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGAT
TACATTTATTGATTTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGA
AGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGG
TTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATAT
TGGTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCA
GAATGATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCT
ATTGATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCATGTACCT
CTGGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTG
GTAAACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTC
AGAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAG
GAATGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTT
TGTAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATA
TCCCCTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTCTTTTT
CTTTATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAA
ACCAGCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATT
TCCTTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTT
TGAATGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGG
TGTCAATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATA
AATTTCCCTCTACACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGT
GGTGTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCA
TTTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCAT
GTAGTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGAT
TGCACTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATT
TGCTGAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTG
TGGTGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGT
TCTGTAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCT
GGGTATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGT
GGGGTGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTG
TAGGTCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTG
CATAAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACC
ATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTC
TGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCAT
TGGCTTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCT
CTGCACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACT
CTTTATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCAT
TTATATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATG
ATGTTAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCT
CGATGGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGT
TCCTTTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTG
GTGGTGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTC
TCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAA
AATTCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCT
TGTAGGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTT
GAGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCA
TTTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTC
GAGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGC
CTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGT
TTTCCAACTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGA
CCAGGCTTGCTTAGGTAAACAAAGCAGCCGGGAAGCTCGAACTGGGTGGA
GCCCACCACAGCTCAAGGAGGCCTGCCTGCCTCTGTAGGCTCCACCTCTG
GGGGCAGGGCACAGACAAACAAAAAGACAGCAGTAACCTCTGCAGACTTA
AGTGTCCCTGTCTGACAGCTTTGAAGAGAGCAGTGGTTCTCCCAGGAGGC
AGCTGGAGATCTGAGAACGGGCAGACTGCCTCCTCAAGTGGGTCCCTGAC
TCCTGACCCCCGAGCAGCCTAACTGGGAGGCACCCCCCAGCAGGGGCACA
CTGACACCTCACACGGCAGGGTATTCCAACAGACCTGCAGCTGAGGGTCC
TGTCTGTTAGAAGGAAAACTAACAACCAGAAAGGACATCTACACCGAAAA
CCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAACCACAA
AGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACGCAGAGC
GCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGAACAAAG
CTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCAGACGAT
CAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAAGAAGTT
GAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAACCAATAC
AGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTCGAGAAC
TACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACTGGAAGAA
AGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGAAGGGAA
GTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAGAAATAT
GGGACTATGT
2 a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0004t0001g0009
a0001c0004t0017g0007
2 HG02630.hp2
HG02922.hp1
HG02630.hp2
HG02922.hp1
intron_variant MODIFIER c.193-36660_193-3665
others(5613): Show 
c.193-36660_193-36659insTTTTTTTTTTTTTTTTATTTTTTTTT
TTTTTTTATTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGT
GCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCG
CTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTAT
CCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCC
CTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGA
ATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATCATG
GTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTT
TATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCC
AGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTG
AATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGA
TTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATG
GTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAAT
GGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTC
TCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA
TTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCT
CTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATA
AATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGA
TGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATT
CTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCA
TGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGA
AGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCC
ATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTG
AATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAA
CGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGG
AAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCA
CCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTT
TGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCT
GTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGT
TTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGC
CTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTT
TTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAA
AGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGG
GCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGA
ATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTT
GTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTA
GGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATC
TGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTG
TACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAA
GGAGATTTTGGGCTGAGACGATGGGGTTTTCTAGATAAACAATCATGTCA
TCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTT
TATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGT
TGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAA
GGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTT
GTCATAGATAGCTCTTATTATTTTGAAATACGTCCCATCAATACCTAATT
TATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTT
TCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTAT
ATGCTGGATTACATTTATTGATTTGCGTATATTGAACCAGCCTTGCATCC
CAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGC
TGGATTCGGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCAT
CAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCT
TTGGTATCAGAATGATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCC
TCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTC
CATGTACCTCTGGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCT
TTTTGGTTGGTAAACTATTGATTATTGCCACAATTTCAGAGCCTGTTATT
GGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTA
TGTGTCGAGGAATGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGT
AGAGGTGTTTGTAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCG
GTGGTGATATCCCCTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTC
TCTCTTTTTCTTTATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCC
TTTCAAAAAACCAGCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGT
GTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCT
GCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTG
ATGTTAGGGTGTCAATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTT
AGTGCTATAAATTTCCCTCTACACACTGCTTTGAATGCGTCCCAGAGATT
CTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTT
CTGCCTTCATTTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTC
AGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTC
TAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTC
TTTTACATTTGCTGAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTG
GAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGG
GTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGT
TCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAAT
GTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAA
GTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTG
TATTGGGTGCATAAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGAT
CCCTTTACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGG
TTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTT
GTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTA
TGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAATACAGCACACTGATGG
GTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAAT
TTAGTCCATTTATATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCT
GTCATTATGATGTTAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCT
TCCTAGTCTCGATGGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGT
ACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGG
GCAGGCCTGGTGGTGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTA
TTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTC
TGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCT
CTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGG
CTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTT
TTTCCTTCATTTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTT
GCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTG
AACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCT
GCAGAGTGTTTTCCAACTTGGTTCCATTCTCCACATCACTTTCAGGTACA
CCAATCAGACCAGGCTTGCTTAGGTAAACAAAGCAGCCGGGAAGCTCGAA
CTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCCTCTGTAGGCT
CCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGCAGTAACCTCT
GCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAGAGCAGTGGTTCTC
CCAGGAGGCAGCTGGAGATCTGAGAACGGGCAGACTGCCTCCTCAAGTGG
GTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGAGGCACCCCCCAGC
AGGGGCACACTGACACCTCACACGGCAGGGTATTCCAACAGACCTGCAGC
TGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCAGAAAGGACATCTA
CACCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATA
AAACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAA
ACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAAC
AGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCT
TCAGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGC
AAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAAT
AACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGG
CTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAA
CTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCG
AGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCC
AAGAAATATGGGACTATGTGACAGTGATTTTTA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156471927
chr5:156471927 A
A
AGACAGTG
others(5601): Show 
AGACAGTGATTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTG
CAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCAC
TAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCC
TCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGT
CCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTG
TTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATCATGGTTTCCAATT
TCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCA
TAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCAT
TGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCG
CAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCA
TTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAG
TTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTA
GTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCT
CTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGG
TGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCA
GTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCT
TTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTT
TGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTA
GCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGT
TGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAG
TTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTG
GTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATG
CCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATC
TTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCA
GTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTA
AATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGAT
CAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCC
ATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACT
GTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTT
GTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCC
ATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGT
AGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGC
CATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCC
ATTTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCC
TTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTAT
TCTCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATCTGGCTCTCTG
TTTGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATT
TTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTG
GGCTGAGACGATGGGGTTTTCTAGATAAACAATCATGTCATCTGCAAACA
GGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTC
TCCTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAG
CGGTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTT
CCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATA
GCTCTTATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGT
TTTTAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTA
TTGAGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATT
ACATTTATTGATTTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAA
GCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGT
TTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATT
GGTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAG
AATGATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTA
TTGATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCATGTACCTC
TGGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGG
TAAACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCA
GAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGG
AATGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTT
GTAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATAT
CCCCTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTCTTTTTC
TTTATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAA
CCAGCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTT
CCTTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTT
GAATGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGT
GTCAATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAA
ATTTCCCTCTACACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTG
GTGTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCAT
TTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATG
TAGTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATT
GCACTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTT
GCTGAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGT
GGTGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTT
CTGTAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTG
GGTATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTG
GGGTGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGT
AGGTCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGC
ATAAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCA
TTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCT
GTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATT
GGCTTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTC
TGCACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTC
TTTATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATT
TATATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGA
TGTTAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTC
GATGGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTT
CCTTTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGG
TGGTGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCT
CCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAA
ATTCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTT
GTAGGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTG
AGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCAT
TTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCG
AGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCC
TGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTT
TTCCAACTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGAC
CAGGCTTGCTTAGGTAAACAAAGCAGCCGGGAAGCTCGAACTGGGTGGAG
CCCACCACAGCTCAAGGAGGCCTGCCTGCCTCTGTAGGCTCCACCTCTGG
GGGCAGGGCACAGACAAACAAAAAGACAGCAGTAACCTCTGCAGACTTAA
GTGTCCCTGTCTGACAGCTTTGAAGAGAGCAGTGGTTCTCCCAGGAGGCA
GCTGGAGATCTGAGAACGGGCAGACTGCCTCCTCAAGTGGGTCCCTGACT
CCTGACCCCCGAGCAGCCTAACTGGGAGGCACCCCCCAGCAGGGGCACAC
TGACACCTCACACGGCAGGGTATTCCAACAGACCTGCAGCTGAGGGTCCT
GTCTGTTAGAAGGAAAACTAACAACCAGAAAGGACATCTACACCGAAAAC
CCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAACCACAAA
GATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACGCAGAGCG
CCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGAACAAAGC
TGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCAGACGATC
AAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAAGAAGTTG
AAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAACCAATACA
GAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTCGAGAACT
ACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACTGGAAGAAA
GGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGAAGGGAAG
TTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAGAAATATG
GGACTATGT
1 a0001c0001t0001g0008
a0001c0001t0001g0008
1 NA18522.hp1
NA18522.hp1
intron_variant MODIFIER c.193-36660_193-3665
others(5612): Show 
c.193-36660_193-36659insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTG
CACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGC
TGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATC
CCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCC
TTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAA
TATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATCATGG
TTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTT
ATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCA
GTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGA
ATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGAT
TTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGG
TATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATG
GTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCT
CCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCAT
TCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTC
TGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAA
ATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGAT
GGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTC
TGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCAT
GTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAA
GCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCA
TTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGA
ATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAAC
GTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGA
AGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCAC
CATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTT
GTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTG
TTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTT
TTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCC
TCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTT
TTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAA
GTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGG
CAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAA
TGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTG
TAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAG
GTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATCT
GGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGT
ACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAG
GAGATTTTGGGCTGAGACGATGGGGTTTTCTAGATAAACAATCATGTCAT
CTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTT
ATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTT
GAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAG
GGAATGCTTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTG
TCATAGATAGCTCTTATTATTTTGAAATACGTCCCATCAATACCTAATTT
ATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTT
CTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATA
TGCTGGATTACATTTATTGATTTGCGTATATTGAACCAGCCTTGCATCCC
AGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCT
GGATTCGGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATC
AAGGATATTGGTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTT
TGGTATCAGAATGATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCT
CTTTTTCTATTGATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCC
ATGTACCTCTGGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTT
TTTGGTTGGTAAACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTG
GTCTATTCAGAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTAT
GTGTCGAGGAATGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTA
GAGGTGTTTGTAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGG
TGGTGATATCCCCTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCT
CTCTTTTTCTTTATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCT
TTCAAAAAACCAGCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTG
TCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTG
CTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGA
TGTTAGGGTGTCAATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTA
GTGCTATAAATTTCCCTCTACACACTGCTTTGAATGCGTCCCAGAGATTC
TGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTC
TGCCTTCATTTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCA
GTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCT
AGTTTGATTGCACTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCT
TTTACATTTGCTGAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGG
AATAGGTGTGGTGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGG
TGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTT
CAATTCCTGGGTATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATG
TTGACAGTGGGGTGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAG
TCTCTTTGTAGGTCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGT
ATTGGGTGCATAAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATC
CCTTTACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGT
TTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTG
TTTTCCATTGGCTTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTAT
GTGTGTCTCTGCACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGG
TCTTGACTCTTTATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATT
TAGTCCATTTATATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTG
TCATTATGATGTTAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTT
CCTAGTCTCGATGGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTA
CCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGG
CAGGCCTGGTGGTGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTAT
TTTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCT
GGGTTGAAAATTCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTC
TTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGC
TTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTT
TTCCTTCATTTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTG
CTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGA
ACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTG
CAGAGTGTTTTCCAACTTGGTTCCATTCTCCACATCACTTTCAGGTACAC
CAATCAGACCAGGCTTGCTTAGGTAAACAAAGCAGCCGGGAAGCTCGAAC
TGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCCTCTGTAGGCTC
CACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGCAGTAACCTCTG
CAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAGAGCAGTGGTTCTCC
CAGGAGGCAGCTGGAGATCTGAGAACGGGCAGACTGCCTCCTCAAGTGGG
TCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGAGGCACCCCCCAGCA
GGGGCACACTGACACCTCACACGGCAGGGTATTCCAACAGACCTGCAGCT
GAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCAGAAAGGACATCTAC
ACCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAA
AACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAA
CGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACA
GAACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGAGAAGAAGGCTT
CAGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCA
AAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATA
ACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGC
TCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAAC
TGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGA
GAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCA
AGAAATATGGGACTATGTGACAGTGATTTTTA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156471927
chr5:156471984 A
A
T
T
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-36617A>T
c.193-36617A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156471984
chr5:156472000 C
C
T
T
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.193-36601C>T
c.193-36601C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156472000
chr5:156472074 A
A
G
G
1 a0001c0001t0001g0054
a0001c0001t0001g0054
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.193-36527A>G
c.193-36527A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156472074
chr5:156472210 G
G
C
C
1 a0001c0001t0001g0025
a0001c0001t0001g0025
1 HG03139.hp1
HG03139.hp1
intron_variant MODIFIER c.193-36391G>C
c.193-36391G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156472210
chr5:156472463 T
T
G
G
61 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(58): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
61 HG00639.hp2
HG01081.hp1
HG01261.hp2
others(58): Show 
HG00639.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-36138T>G
c.193-36138T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156472463
chr5:156472578 C
C
T
T
11 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(8): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
11 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(8): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-36023C>T
c.193-36023C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156472578
chr5:156472712 C
C
T
T
2 a0001c0001t0003g0125
a0001c0001t0040g0131
a0001c0001t0003g0125
a0001c0001t0040g0131
2 HG01081.hp2
HG01109.hp1
HG01081.hp2
HG01109.hp1
intron_variant MODIFIER c.193-35889C>T
c.193-35889C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156472712
chr5:156472809 G
G
A
A
2 a0001c0001t0018g0039
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0037g0042
2 NA19030.hp2
NA19043.hp2
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.193-35792G>A
c.193-35792G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156472809
chr5:156472821 C
C
T
T
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-35780C>T
c.193-35780C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156472821
chr5:156473277 C
C
G
G
1 a0001c0001t0003g0136
a0001c0001t0003g0136
1 HG02698.hp1
HG02698.hp1
intron_variant MODIFIER c.193-35324C>G
c.193-35324C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156473277
chr5:156473293 T
T
C
C
9 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
9 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-35308T>C
c.193-35308T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156473293
chr5:156473325 T
T
C
C
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-35276T>C
c.193-35276T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156473325
chr5:156473391 C
C
T
T
130 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
130 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(127): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-35210C>T
c.193-35210C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156473391
chr5:156473483 A
A
G
G
3 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02615.hp1
NA18906.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-35118A>G
c.193-35118A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156473483
chr5:156473747 A
A
C
C
1 a0002c0003t0003g0140
a0002c0003t0003g0140
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.193-34854A>C
c.193-34854A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156473747
chr5:156473880 C
C
T
T
1 a0001c0001t0040g0131
a0001c0001t0040g0131
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.193-34721C>T
c.193-34721C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156473880
chr5:156473968 G
G
GT
GT
13 a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0119
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0045g0137
a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0022g0029
a0001c0002t0023g0112
a0002c0003t0003g0140
a0002c0003t0017g0014
13 HG01070.hp1
HG01071.hp1
HG01071.hp2
others(10): Show 
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01891.hp1
HG02055.hp2
HG02559.hp1
HG02717.hp2
HG02735.hp2
HG03098.hp1
HG03139.hp1
HG03486.hp2
HG04115.hp2
NA20300.hp2
intron_variant MODIFIER c.193-34620dupT
c.193-34620dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156473968
chr5:156473968 GT
GT
G
G
21 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(18): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0050g0072
a0001c0002t0057g0110
21 HG00639.hp2
HG01981.hp1
HG02055.hp1
others(18): Show 
HG00639.hp2
HG01981.hp1
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02809.hp1
HG02895.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.193-34620delT
c.193-34620delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156473968
chr5:156474166 T
T
C
C
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-34435T>C
c.193-34435T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156474166
chr5:156474457 C
C
T
T
3 a0001c0001t0001g0008
a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0001g0008
a0001c0001t0003g0056
a0001c0001t0014g0055
3 HG01070.hp2
HG01169.hp1
NA18522.hp1
HG01070.hp2
HG01169.hp1
NA18522.hp1
intron_variant MODIFIER c.193-34144C>T
c.193-34144C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156474457
chr5:156474505 A
A
C
C
1 a0001c0002t0002g0061
a0001c0002t0002g0061
1 HG03486.hp2
HG03486.hp2
intron_variant MODIFIER c.193-34096A>C
c.193-34096A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156474505
chr5:156474527 A
A
G
G
2 a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0009g0049
a0001c0001t0014g0048
2 HG02723.hp1
HG03139.hp2
HG02723.hp1
HG03139.hp2
intron_variant MODIFIER c.193-34074A>G
c.193-34074A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156474527
chr5:156474567 A
A
G
G
60 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(57): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
60 HG00639.hp2
HG01081.hp1
HG01261.hp2
others(57): Show 
HG00639.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-34034A>G
c.193-34034A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156474567
chr5:156474865 T
T
C
C
60 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(57): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
60 HG00639.hp2
HG01081.hp1
HG01261.hp2
others(57): Show 
HG00639.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-33736T>C
c.193-33736T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156474865
chr5:156474993 G
G
T
T
14 a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0038g0044
others(11): Show 
a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0011g0090
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
14 HG00639.hp1
HG01256.hp1
HG01258.hp1
others(11): Show 
HG00639.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02735.hp1
HG02809.hp2
HG03704.hp1
HG04115.hp2
NA19009.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-33608G>T
c.193-33608G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156474993
chr5:156475270 G
G
T
T
27 a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0005g0047
others(24): Show 
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
27 HG00639.hp1
HG01109.hp2
HG01256.hp1
others(24): Show 
HG00639.hp1
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03704.hp1
HG04115.hp2
NA18990.hp2
NA19002.hp1
NA19009.hp2
NA19010.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-33331G>T
c.193-33331G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156475270
chr5:156475335 C
C
G
G
57 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0004c0007t0020g0012
57 HG00639.hp2
HG01081.hp1
HG01261.hp2
others(54): Show 
HG00639.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-33266C>G
c.193-33266C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156475335
chr5:156475475 C
C
G
G
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-33126C>G
c.193-33126C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156475475
chr5:156475612 T
T
G
G
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.193-32989T>G
c.193-32989T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156475612
chr5:156475725 G
G
A
A
9 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(6): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0006t0018g0145
9 HG01243.hp1
HG01243.hp2
HG02145.hp1
others(6): Show 
HG01243.hp1
HG01243.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02559.hp2
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.193-32876G>A
c.193-32876G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156475725
chr5:156475809 A
A
G
G
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-32792A>G
c.193-32792A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156475809
chr5:156475871 A
A
G
G
3 a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
3 NA19030.hp2
NA19043.hp2
NA20129.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-32730A>G
c.193-32730A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156475871
chr5:156476286 G
G
GA
GA
12 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(9): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
12 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(9): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-32309dupA
c.193-32309dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156476286
chr5:156476368 G
G
A
A
3 a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
3 NA19030.hp2
NA19043.hp2
NA20129.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-32233G>A
c.193-32233G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156476368
chr5:156476404 G
G
A
A
1 a0001c0002t0005g0097
a0001c0002t0005g0097
1 NA20805.hp2
NA20805.hp2
intron_variant MODIFIER c.193-32197G>A
c.193-32197G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156476404
chr5:156476614 C
C
T
T
1 a0001c0001t0040g0131
a0001c0001t0040g0131
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.193-31987C>T
c.193-31987C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156476614
chr5:156476666 A
A
G
G
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-31935A>G
c.193-31935A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156476666
chr5:156476745 G
G
A
A
3 a0001c0001t0001g0147
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0001g0147
a0001c0001t0009g0036
a0001c0001t0012g0010
3 HG01981.hp1
HG02615.hp2
HG02895.hp1
HG01981.hp1
HG02615.hp2
HG02895.hp1
intron_variant MODIFIER c.193-31856G>A
c.193-31856G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156476745
chr5:156476897 T
T
A
A
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.193-31704T>A
c.193-31704T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156476897
chr5:156476903 C
C
T
T
3 a0001c0001t0001g0147
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0001g0147
a0001c0001t0009g0036
a0001c0001t0012g0010
3 HG01981.hp1
HG02615.hp2
HG02895.hp1
HG01981.hp1
HG02615.hp2
HG02895.hp1
intron_variant MODIFIER c.193-31698C>T
c.193-31698C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156476903
chr5:156477049 G
G
GA
GA
11 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0018g0039
others(8): Show 
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0057g0110
a0001c0002t0058g0089
11 HG01981.hp1
HG02055.hp1
HG02145.hp2
others(8): Show 
HG01981.hp1
HG02055.hp1
HG02145.hp2
HG02615.hp1
HG02895.hp1
HG03130.hp2
HG03453.hp2
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-31537dupA
c.193-31537dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156477049
chr5:156477049 G
G
GAA
GAA
37 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0054g0073
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
37 HG01081.hp1
HG01261.hp2
HG01516.hp1
others(34): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02897.hp2
HG02965.hp1
HG03239.hp1
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-31538_193-3153
others(6): Show 
c.193-31538_193-31537dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156477049
chr5:156477049 G
G
GAAA
GAAA
12 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(9): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
12 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(9): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-31539_193-3153
others(7): Show 
c.193-31539_193-31537dupAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156477049
chr5:156477177 T
T
A
A
1 a0001c0002t0005g0082
a0001c0002t0005g0082
1 HG03490.hp2
HG03490.hp2
intron_variant MODIFIER c.193-31424T>A
c.193-31424T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156477177
chr5:156477290 A
A
G
G
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-31311A>G
c.193-31311A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156477290
chr5:156477340 G
G
C
C
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-31261G>C
c.193-31261G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156477340
chr5:156477419 T
T
G
G
2 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0003g0056
a0001c0001t0014g0055
2 HG01070.hp2
HG01169.hp1
HG01070.hp2
HG01169.hp1
intron_variant MODIFIER c.193-31182T>G
c.193-31182T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156477419
chr5:156477628 G
G
A
A
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-30973G>A
c.193-30973G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156477628
chr5:156477657 T
T
C
C
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-30944T>C
c.193-30944T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156477657
chr5:156477685 C
C
CA
CA
42 a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0081
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
42 HG01081.hp1
HG01261.hp2
HG01516.hp1
others(39): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02056.hp1
HG02129.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-30897dupA
c.193-30897dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156477685
chr5:156477685 C
C
CAA
CAA
27 a0001c0001t0001g0008
a0001c0001t0001g0050
a0001c0001t0001g0058
others(24): Show 
a0001c0001t0001g0008
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0022g0064
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0002g0077
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0058g0089
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
27 HG00639.hp2
HG01243.hp1
HG01243.hp2
others(24): Show 
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02630.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18966.hp2
NA19043.hp1
intron_variant MODIFIER c.193-30898_193-3089
others(6): Show 
c.193-30898_193-30897dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156477685
chr5:156477686 A
A
C
C
13 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0007g0123
others(10): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0092
a0001c0002t0008g0105
a0001c0002t0053g0085
a0001c0002t0055g0091
13 HG00558.hp1
HG00558.hp2
HG01891.hp1
others(10): Show 
HG00558.hp1
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19011.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-30915A>C
c.193-30915A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156477686
chr5:156477687 A
A
C
C
2 a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0129
a0001c0001t0005g0130
2 NA19009.hp1
NA19057.hp2
NA19009.hp1
NA19057.hp2
intron_variant MODIFIER c.193-30914A>C
c.193-30914A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156477687
chr5:156477794 A
A
G
G
57 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
57 HG00639.hp2
HG01081.hp1
HG01261.hp2
others(54): Show 
HG00639.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-30807A>G
c.193-30807A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156477794
chr5:156477809 A
A
G
G
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-30792A>G
c.193-30792A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156477809
chr5:156477872 T
T
C
C
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-30729T>C
c.193-30729T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156477872
chr5:156478000 G
G
A
A
1 a0001c0002t0002g0062
a0001c0002t0002g0062
1 HG00558.hp1
HG00558.hp1
intron_variant MODIFIER c.193-30601G>A
c.193-30601G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478000
chr5:156478081 G
G
A
A
1 a0001c0002t0015g0078
a0001c0002t0015g0078
1 HG02155.hp1
HG02155.hp1
intron_variant MODIFIER c.193-30520G>A
c.193-30520G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478081
chr5:156478123 A
A
G
G
76 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(73): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
76 HG00558.hp1
HG00558.hp2
HG00639.hp2
others(73): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-30478A>G
c.193-30478A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478123
chr5:156478128 T
T
C
C
4 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0020g0017
others(1): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0020g0017
a0001c0001t0043g0139
4 HG02622.hp1
HG02630.hp1
HG02895.hp2
others(1): Show 
HG02622.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.193-30473T>C
c.193-30473T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478128
chr5:156478236 A
A
G
G
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-30365A>G
c.193-30365A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478236
chr5:156478296 C
C
T
T
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-30305C>T
c.193-30305C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478296
chr5:156478409 C
C
A
A
12 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(9): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
12 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(9): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-30192C>A
c.193-30192C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478409
chr5:156478533 A
A
G
G
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-30068A>G
c.193-30068A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478533
chr5:156478612 G
G
A
A
15 a0001c0001t0001g0050
a0001c0001t0001g0147
a0001c0001t0006g0037
others(12): Show 
a0001c0001t0001g0050
a0001c0001t0001g0147
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
15 HG00639.hp2
HG01981.hp1
HG02258.hp2
others(12): Show 
HG00639.hp2
HG01981.hp1
HG02258.hp2
HG02615.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-29989G>A
c.193-29989G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478612
chr5:156478667 G
G
A
A
12 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(9): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
12 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(9): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-29934G>A
c.193-29934G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478667
chr5:156478724 G
G
A
A
9 a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0027g0011
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0002t0052g0111
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
9 HG01261.hp2
HG01516.hp2
HG02056.hp1
others(6): Show 
HG01261.hp2
HG01516.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG03453.hp2
HG03490.hp1
NA18959.hp1
NA19030.hp1
intron_variant MODIFIER c.193-29877G>A
c.193-29877G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478724
chr5:156478732 C
C
T
T
1 a0002c0003t0003g0140
a0002c0003t0003g0140
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.193-29869C>T
c.193-29869C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478732
chr5:156478733 G
G
A
A
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-29868G>A
c.193-29868G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478733
chr5:156478760 T
T
C
C
12 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(9): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
12 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(9): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-29841T>C
c.193-29841T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478760
chr5:156478778 G
G
A
A
2 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0116
a0001c0001t0001g0117
2 HG02055.hp2
HG02717.hp2
HG02055.hp2
HG02717.hp2
intron_variant MODIFIER c.193-29823G>A
c.193-29823G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478778
chr5:156478800 C
C
G
G
40 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(37): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
40 HG00558.hp2
HG01081.hp1
HG01261.hp2
others(37): Show 
HG00558.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02897.hp2
HG02965.hp1
HG03239.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-29801C>G
c.193-29801C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478800
chr5:156478836 C
C
G
G
12 a0001c0001t0001g0008
a0001c0001t0001g0058
a0001c0001t0001g0143
others(9): Show 
a0001c0001t0001g0008
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0033g0141
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
12 HG01243.hp1
HG01243.hp2
HG02145.hp1
others(9): Show 
HG01243.hp1
HG01243.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02559.hp2
HG02630.hp2
HG02922.hp1
HG03225.hp2
HG03579.hp1
NA18522.hp1
NA19043.hp1
intron_variant MODIFIER c.193-29765C>G
c.193-29765C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156478836
chr5:156479006 T
T
A
A
3 a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
3 NA19030.hp2
NA19043.hp2
NA20129.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-29595T>A
c.193-29595T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156479006
chr5:156479054 G
G
A
A
3 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02615.hp1
NA18906.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-29547G>A
c.193-29547G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156479054
chr5:156479119 G
G
A
A
1 a0001c0001t0018g0039
a0001c0001t0018g0039
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.193-29482G>A
c.193-29482G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156479119
chr5:156479178 C
C
T
T
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.193-29423C>T
c.193-29423C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156479178
chr5:156479342 C
C
T
T
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.193-29259C>T
c.193-29259C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156479342
chr5:156479348 G
G
A
A
12 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(9): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
12 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(9): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-29253G>A
c.193-29253G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156479348
chr5:156479460 G
G
A
A
1 a0001c0001t0006g0038
a0001c0001t0006g0038
1 HG02809.hp1
HG02809.hp1
intron_variant MODIFIER c.193-29141G>A
c.193-29141G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156479460
chr5:156479526 G
G
A
A
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-29075G>A
c.193-29075G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156479526
chr5:156479666 A
A
G
G
3 a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
3 HG02630.hp2
HG02922.hp1
NA18522.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-28935A>G
c.193-28935A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156479666
chr5:156479672 A
A
G
G
2 a0001c0001t0047g0003
a0001c0002t0011g0090
a0001c0001t0047g0003
a0001c0002t0011g0090
2 NA20129.hp1
homoSapiens_chm13v2.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-28929A>G
c.193-28929A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156479672
chr5:156479929 A
A
AT
AT
3 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02615.hp1
NA18906.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-28669dupT
c.193-28669dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156479929
chr5:156479944 A
A
G
G
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-28657A>G
c.193-28657A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156479944
chr5:156480477 A
A
G
G
76 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(73): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
76 HG00558.hp1
HG00558.hp2
HG00639.hp2
others(73): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-28124A>G
c.193-28124A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156480477
chr5:156481112 A
A
G
G
1 a0001c0002t0052g0111
a0001c0002t0052g0111
1 HG03453.hp2
HG03453.hp2
intron_variant MODIFIER c.193-27489A>G
c.193-27489A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156481112
chr5:156481144 A
A
G
G
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-27457A>G
c.193-27457A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156481144
chr5:156481249 G
G
T
T
2 a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0010g0001
a0001c0002t0010g0108
2 NA18990.hp2
NA19002.hp1
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.193-27352G>T
c.193-27352G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156481249
chr5:156481521 A
A
C
C
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.193-27080A>C
c.193-27080A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156481521
chr5:156481775 A
A
G
G
61 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(58): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
61 HG00639.hp2
HG01081.hp1
HG01261.hp2
others(58): Show 
HG00639.hp2
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-26826A>G
c.193-26826A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156481775
chr5:156481858 G
G
A
A
3 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0047g0003
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0047g0003
3 HG01981.hp1
HG02895.hp1
NA20129.hp1
HG01981.hp1
HG02895.hp1
NA20129.hp1
intron_variant MODIFIER c.193-26743G>A
c.193-26743G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156481858
chr5:156481910 C
C
T
T
39 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(36): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
39 HG01081.hp1
HG01261.hp2
HG01516.hp1
others(36): Show 
HG01081.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02897.hp2
HG02965.hp1
HG03239.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-26691C>T
c.193-26691C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156481910
chr5:156481938 G
G
A
A
3 a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
3 NA19030.hp2
NA19043.hp2
NA20129.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-26663G>A
c.193-26663G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156481938
chr5:156482063 G
G
T
T
14 a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0038g0044
others(11): Show 
a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0075
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0011g0090
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
14 HG00639.hp1
HG01256.hp1
HG01258.hp1
others(11): Show 
HG00639.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02735.hp1
HG02809.hp2
HG03704.hp1
HG04115.hp2
NA19009.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-26538G>T
c.193-26538G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156482063
chr5:156482226 G
G
T
T
1 a0002c0003t0003g0140
a0002c0003t0003g0140
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.193-26375G>T
c.193-26375G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156482226
chr5:156482321 T
T
C
C
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-26280T>C
c.193-26280T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156482321
chr5:156482573 G
G
A
A
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-26028G>A
c.193-26028G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156482573
chr5:156482747 C
C
T
T
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-25854C>T
c.193-25854C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156482747
chr5:156482795 G
G
A
A
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.193-25806G>A
c.193-25806G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156482795
chr5:156482813 G
G
GT
GT
23 a0001c0001t0001g0008
a0001c0001t0001g0045
a0001c0001t0001g0058
others(20): Show 
a0001c0001t0001g0008
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0007g0126
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0040g0131
a0001c0001t0043g0139
a0001c0002t0004g0114
a0001c0002t0010g0001
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0006t0018g0145
23 HG01109.hp1
HG01109.hp2
HG01243.hp1
others(20): Show 
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01261.hp1
HG01981.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp1
NA18990.hp2
NA19002.hp2
NA19043.hp1
intron_variant MODIFIER c.193-25763dupT
c.193-25763dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156482813
chr5:156482813 G
G
GTT
GTT
15 a0001c0001t0001g0050
a0001c0001t0001g0122
a0001c0001t0001g0146
others(12): Show 
a0001c0001t0001g0050
a0001c0001t0001g0122
a0001c0001t0001g0146
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0004g0092
a0001c0002t0008g0105
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0004t0001g0009
a0001c0004t0017g0007
15 HG00558.hp1
HG00558.hp2
HG00639.hp2
others(12): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG02083.hp2
HG02145.hp1
HG02630.hp2
HG02922.hp1
HG02965.hp2
HG03453.hp1
NA18522.hp2
NA18964.hp2
NA19009.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-25764_193-2576
others(6): Show 
c.193-25764_193-25763dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156482813
chr5:156482813 G
G
GTTT
GTTT
17 a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
others(14): Show 
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0134
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0049g0149
a0001c0002t0052g0111
a0001c0002t0058g0089
17 HG01891.hp1
HG02145.hp2
HG02258.hp2
others(14): Show 
HG01891.hp1
HG02145.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03486.hp1
HG03579.hp2
NA18906.hp1
NA18966.hp1
NA18985.hp2
NA19011.hp2
NA19030.hp2
intron_variant MODIFIER c.193-25765_193-2576
others(7): Show 
c.193-25765_193-25763dupTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156482813
chr5:156482813 G
G
GTTTT
GTTTT
19 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0006g0040
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0002t0005g0097
a0001c0002t0015g0078
a0001c0002t0057g0110
19 HG01070.hp2
HG01081.hp1
HG02056.hp1
others(16): Show 
HG01070.hp2
HG01081.hp1
HG02056.hp1
HG02129.hp2
HG02155.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp1
HG02897.hp2
HG03471.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-25766_193-2576
others(8): Show 
c.193-25766_193-25763dupTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156482813
chr5:156482813 G
G
GTTTTT
GTTTTT
20 a0001c0001t0001g0054
a0001c0001t0014g0055
a0001c0001t0026g0016
others(17): Show 
a0001c0001t0001g0054
a0001c0001t0014g0055
a0001c0001t0026g0016
a0001c0001t0046g0121
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0008g0115
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
20 HG01169.hp1
HG01261.hp2
HG01516.hp1
others(17): Show 
HG01169.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG02055.hp1
HG02559.hp1
HG02622.hp2
HG02698.hp2
HG02965.hp1
HG03239.hp1
HG03490.hp2
NA18953.hp2
NA18959.hp1
NA18966.hp2
NA18985.hp1
NA19003.hp2
NA19011.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
intron_variant MODIFIER c.193-25767_193-2576
others(9): Show 
c.193-25767_193-25763dupTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156482813
chr5:156482813 G
G
GTTTTTT
GTTTTTT
6 a0001c0001t0031g0021
a0001c0002t0002g0087
a0001c0002t0002g0107
others(3): Show 
a0001c0001t0031g0021
a0001c0002t0002g0087
a0001c0002t0002g0107
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0054g0073
6 HG01978.hp2
HG02129.hp1
NA18959.hp2
others(3): Show 
HG01978.hp2
HG02129.hp1
NA18959.hp2
NA18990.hp1
NA19010.hp1
NA19057.hp1
intron_variant MODIFIER c.193-25768_193-2576
others(10): Show 
c.193-25768_193-25763dupTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156482813
chr5:156482845 G
G
C
C
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.193-25756G>C
c.193-25756G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156482845
chr5:156482924 C
C
A
A
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.193-25677C>A
c.193-25677C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156482924
chr5:156483016 C
C
T
T
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-25585C>T
c.193-25585C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156483016
chr5:156483086 G
G
A
A
1 a0001c0001t0040g0131
a0001c0001t0040g0131
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.193-25515G>A
c.193-25515G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156483086
chr5:156483338 G
G
T
T
13 a0001c0001t0001g0050
a0001c0001t0001g0150
a0001c0001t0006g0037
others(10): Show 
a0001c0001t0001g0050
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
13 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(10): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-25263G>T
c.193-25263G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156483338
chr5:156483356 A
A
T
T
3 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02615.hp1
NA18906.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-25245A>T
c.193-25245A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156483356
chr5:156483413 G
G
A
A
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-25188G>A
c.193-25188G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156483413
chr5:156483642 C
C
G
G
1 a0001c0002t0002g0098
a0001c0002t0002g0098
1 NA18964.hp1
NA18964.hp1
intron_variant MODIFIER c.193-24959C>G
c.193-24959C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156483642
chr5:156483886 C
C
A
A
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-24715C>A
c.193-24715C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156483886
chr5:156483887 G
G
A
A
1 a0001c0002t0002g0070
a0001c0002t0002g0070
1 NA18985.hp1
NA18985.hp1
intron_variant MODIFIER c.193-24714G>A
c.193-24714G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156483887
chr5:156483933 AG
AG
A
A
29 a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
others(26): Show 
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0014g0055
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0039g0004
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0015g0081
a0001c0002t0054g0073
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
29 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(26): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01978.hp2
HG02129.hp1
HG02559.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02897.hp2
HG02965.hp1
HG03239.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18953.hp2
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.193-24667delG
c.193-24667delG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156483933
chr5:156484078 G
G
A
A
3 a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0023g0112
a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0023g0112
3 HG01071.hp2
HG03098.hp1
HG03486.hp2
HG01071.hp2
HG03098.hp1
HG03486.hp2
intron_variant MODIFIER c.193-24523G>A
c.193-24523G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156484078
chr5:156484243 GAT
GAT
G
G
3 a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0037g0042
3 NA19030.hp2
NA19043.hp2
NA20129.hp2
NA19030.hp2
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.193-24356_193-2435
others(6): Show 
c.193-24356_193-24355delTA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156484243
chr5:156484617 C
C
T
T
1 a0001c0001t0009g0049
a0001c0001t0009g0049
1 HG03139.hp2
HG03139.hp2
intron_variant MODIFIER c.193-23984C>T
c.193-23984C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156484617
chr5:156485035 C
C
T
T
2 a0001c0001t0003g0018
a0001c0001t0032g0020
a0001c0001t0003g0018
a0001c0001t0032g0020
2 HG02056.hp1
HG03490.hp1
HG02056.hp1
HG03490.hp1
intron_variant MODIFIER c.193-23566C>T
c.193-23566C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156485035
chr5:156485142 A
A
G
G
92 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(89): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0094
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0004c0007t0020g0012
92 HG00558.hp1
HG00558.hp2
HG00639.hp2
others(89): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.193-23459A>G
c.193-23459A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156485142
chr5:156485339 G
G
A
A
2 a0001c0001t0018g0039
a0001c0001t0037g0042
a0001c0001t0018g0039
a0001c0001t0037g0042
2 NA19030.hp2
NA19043.hp2
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.193-23262G>A
c.193-23262G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156485339
chr5:156485395 G
G
A
A
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.193-23206G>A
c.193-23206G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156485395
chr5:156485464 C
C
A
A
131 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(128): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
131 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(128): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-23137C>A
c.193-23137C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156485464
chr5:156485507 C
C
T
T
29 a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0005g0047
others(26): Show 
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0005g0047
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0075
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
29 HG00639.hp1
HG01071.hp2
HG01109.hp2
others(26): Show 
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02258.hp1
HG02717.hp1
HG02735.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03704.hp1
HG04115.hp2
NA19009.hp2
NA19030.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-23094C>T
c.193-23094C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156485507
chr5:156485535 C
C
T
T
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-23066C>T
c.193-23066C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156485535
chr5:156485566 A
A
G
G
101 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(98): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
101 HG00639.hp1
HG01070.hp2
HG01071.hp2
others(98): Show 
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-23035A>G
c.193-23035A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156485566
chr5:156486010 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-22591G>A
c.193-22591G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156486010
chr5:156486033 A
A
G
G
3 a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
3 HG02630.hp2
HG02922.hp1
NA18522.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-22568A>G
c.193-22568A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156486033
chr5:156486307 C
C
T
T
16 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(13): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0004g0092
a0001c0002t0008g0105
a0001c0002t0053g0085
a0001c0002t0055g0091
16 HG00558.hp1
HG00558.hp2
HG01891.hp1
others(13): Show 
HG00558.hp1
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.193-22294C>T
c.193-22294C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156486307
chr5:156486436 C
C
T
T
4 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0069
others(1): Show 
a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0069
a0001c0002t0002g0102
4 HG01070.hp2
HG01169.hp1
NA19090.hp2
others(1): Show 
HG01070.hp2
HG01169.hp1
NA19090.hp2
NA19240.hp2
intron_variant MODIFIER c.193-22165C>T
c.193-22165C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156486436
chr5:156486556 A
A
T
T
1 a0002c0003t0003g0140
a0002c0003t0003g0140
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.193-22045A>T
c.193-22045A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156486556
chr5:156486753 G
G
A
A
1 a0001c0002t0013g0030
a0001c0002t0013g0030
1 HG02970.hp2
HG02970.hp2
intron_variant MODIFIER c.193-21848G>A
c.193-21848G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156486753
chr5:156486885 A
A
C
C
45 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(42): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0014g0055
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0094
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0054g0073
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
45 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(42): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02559.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03239.hp1
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.193-21716A>C
c.193-21716A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156486885
chr5:156487177 C
C
A
A
12 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(9): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
12 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(9): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-21424C>A
c.193-21424C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156487177
chr5:156487195 T
T
C
C
1 a0001c0002t0002g0069
a0001c0002t0002g0069
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.193-21406T>C
c.193-21406T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156487195
chr5:156487441 G
G
A
A
49 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
others(46): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0075
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
49 HG00639.hp1
HG01071.hp2
HG01109.hp2
others(46): Show 
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18990.hp2
NA19002.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-21160G>A
c.193-21160G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156487441
chr5:156487541 G
G
A
A
1 a0002c0003t0017g0014
a0002c0003t0017g0014
1 HG04115.hp2
HG04115.hp2
intron_variant MODIFIER c.193-21060G>A
c.193-21060G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156487541
chr5:156487788 CAAAAAAA
others(1): Show 
CAAAAAAAA
C
C
29 a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0005g0047
others(26): Show 
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0038g0044
a0001c0002t0002g0061
a0001c0002t0002g0075
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0002c0003t0017g0014
a0003c0005t0001g0148
29 HG00639.hp1
HG01071.hp2
HG01109.hp2
others(26): Show 
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03486.hp2
HG03704.hp1
HG04115.hp2
NA18990.hp2
NA19002.hp1
NA19009.hp2
NA19030.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-20792_193-2078
others(12): Show 
c.193-20792_193-20785delAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487788
chr5:156487788 CAAAAAAA
others(2): Show 
CAAAAAAAAA
C
C
20 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0058
others(17): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0033g0141
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
20 HG01243.hp1
HG01243.hp2
HG02145.hp1
others(17): Show 
HG01243.hp1
HG01243.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG03139.hp1
HG03225.hp2
HG03579.hp1
NA18522.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp2
intron_variant MODIFIER c.193-20793_193-2078
others(13): Show 
c.193-20793_193-20785delAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487788
chr5:156487788 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
C
C
12 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(9): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
12 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(9): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-20795_193-2078
others(15): Show 
c.193-20795_193-20785delAAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487788
chr5:156487809 A
A
AG
AG
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-20792_193-2079
others(5): Show 
c.193-20792_193-20791insG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156487809
chr5:156487813 A
A
AAAAAAAA
others(7): Show 
AAAAAAAAAAAAAAG
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.193-20785_193-2078
others(18): Show 
c.193-20785_193-20784insAAAAAAAAAAGAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487813
chr5:156487813 A
A
AAAAAAAA
others(6): Show 
AAAAAAAAAAAAAG
2 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0001t0041g0028
a0001c0002t0050g0072
2 HG02055.hp1
HG02615.hp1
HG02055.hp1
HG02615.hp1
intron_variant MODIFIER c.193-20785_193-2078
others(17): Show 
c.193-20785_193-20784insAAAAAAAAAGAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487813
chr5:156487813 A
A
AAAAAAAA
others(1): Show 
AAAAAAAAG
6 a0001c0001t0001g0150
a0001c0001t0007g0124
a0001c0001t0007g0134
others(3): Show 
a0001c0001t0001g0150
a0001c0001t0007g0124
a0001c0001t0007g0134
a0001c0001t0045g0137
a0001c0002t0008g0105
a0001c0002t0053g0085
6 HG01891.hp1
HG03453.hp1
HG03486.hp1
others(3): Show 
HG01891.hp1
HG03453.hp1
HG03486.hp1
NA18966.hp1
NA18985.hp2
NA19090.hp1
intron_variant MODIFIER c.193-20785_193-2078
others(12): Show 
c.193-20785_193-20784insAAAAGAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487813
chr5:156487813 A
A
AAAAAAAG
AAAAAAAG
9 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0126
a0001c0001t0007g0138
a0001c0001t0025g0035
a0001c0002t0004g0092
9 HG02083.hp2
HG02155.hp2
NA18964.hp2
others(6): Show 
HG02083.hp2
HG02155.hp2
NA18964.hp2
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA20129.hp2
intron_variant MODIFIER c.193-20785_193-2078
others(11): Show 
c.193-20785_193-20784insAAAGAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487813
chr5:156487813 A
A
AAAAGAAA
others(3): Show 
AAAAGAAAAAG
1 a0001c0002t0002g0070
a0001c0002t0002g0070
1 NA18985.hp1
NA18985.hp1
intron_variant MODIFIER c.193-20781_193-2078
others(14): Show 
c.193-20781_193-20780insAAGAAAGAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487813
chr5:156487813 A
A
AAGAAAAA
others(1): Show 
AAGAAAAAG
39 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(36): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0014g0055
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0002t0002g0069
a0001c0002t0002g0077
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0094
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0054g0073
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
39 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(36): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02559.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03239.hp1
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.193-20787_193-2078
others(12): Show 
c.193-20787_193-20786insGAAAAAGA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487813
chr5:156487813 A
A
G
G
65 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0050
others(62): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0075
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
65 HG00639.hp1
HG00639.hp2
HG01071.hp2
others(62): Show 
HG00639.hp1
HG00639.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18990.hp2
NA19002.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-20788A>G
c.193-20788A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156487813
chr5:156487817 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-20784G>A
c.193-20784G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156487817
chr5:156487868 G
G
A
A
45 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(42): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0014g0055
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0094
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0054g0073
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
45 HG01070.hp2
HG01081.hp1
HG01169.hp1
others(42): Show 
HG01070.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02559.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03239.hp1
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.193-20733G>A
c.193-20733G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156487868
chr5:156487960 T
T
TTA
TTA
2 a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0014g0132
a0001c0001t0016g0120
2 HG01070.hp1
HG01071.hp1
HG01070.hp1
HG01071.hp1
intron_variant MODIFIER c.193-20621_193-2062
others(6): Show 
c.193-20621_193-20620dupAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487960
chr5:156487960 T
T
TTATATAT
others(1): Show 
TTATATATA
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-20627_193-2062
others(12): Show 
c.193-20627_193-20620dupATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487960
chr5:156487960 TTA
TTA
T
T
113 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(110): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
113 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(110): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-20621_193-2062
others(6): Show 
c.193-20621_193-20620delAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487960
chr5:156487960 TTATA
TTATA
T
T
7 a0001c0001t0001g0050
a0001c0001t0001g0150
a0001c0001t0009g0067
others(4): Show 
a0001c0001t0001g0050
a0001c0001t0001g0150
a0001c0001t0009g0067
a0001c0001t0018g0039
a0001c0001t0037g0042
a0001c0001t0048g0053
a0001c0002t0002g0075
7 HG00639.hp2
HG02723.hp2
HG03486.hp1
others(4): Show 
HG00639.hp2
HG02723.hp2
HG03486.hp1
NA18522.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
intron_variant MODIFIER c.193-20623_193-2062
others(8): Show 
c.193-20623_193-20620delATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156487960
chr5:156488095 C
C
T
T
7 a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
others(4): Show 
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0023g0071
a0001c0002t0024g0063
7 HG01981.hp2
HG02040.hp2
HG02071.hp1
others(4): Show 
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
intron_variant MODIFIER c.193-20506C>T
c.193-20506C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488095
chr5:156488098 G
G
GT
GT
18 a0001c0001t0001g0054
a0001c0001t0003g0018
a0001c0001t0003g0119
others(15): Show 
a0001c0001t0001g0054
a0001c0001t0003g0018
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0030g0135
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0004g0079
a0001c0002t0005g0097
a0001c0002t0015g0078
a0001c0002t0024g0063
a0001c0002t0058g0089
18 HG01070.hp1
HG01071.hp1
HG01081.hp2
others(15): Show 
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01169.hp2
HG01256.hp2
HG02040.hp2
HG02056.hp1
HG02145.hp2
HG02155.hp1
HG02622.hp2
HG02735.hp2
HG03239.hp2
HG03490.hp1
NA18964.hp1
NA18966.hp2
NA19003.hp1
NA20300.hp1
NA20805.hp2
intron_variant MODIFIER c.193-20477dupT
c.193-20477dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156488098
chr5:156488098 G
G
GTT
GTT
6 a0001c0001t0001g0133
a0001c0001t0040g0131
a0001c0002t0002g0109
others(3): Show 
a0001c0001t0001g0133
a0001c0001t0040g0131
a0001c0002t0002g0109
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0023g0071
6 HG01109.hp1
HG01978.hp1
HG01981.hp2
others(3): Show 
HG01109.hp1
HG01978.hp1
HG01981.hp2
HG02071.hp1
HG02071.hp2
NA18953.hp1
intron_variant MODIFIER c.193-20478_193-2047
others(6): Show 
c.193-20478_193-20477dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156488098
chr5:156488098 GT
GT
G
G
5 a0001c0001t0003g0056
a0001c0002t0002g0093
a0001c0002t0008g0101
others(2): Show 
a0001c0001t0003g0056
a0001c0002t0002g0093
a0001c0002t0008g0101
a0001c0002t0059g0002
a0002c0003t0003g0140
5 HG01070.hp2
HG02559.hp1
NA18953.hp2
others(2): Show 
HG01070.hp2
HG02559.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
intron_variant MODIFIER c.193-20477delT
c.193-20477delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156488098
chr5:156488098 GTTT
GTTT
G
G
26 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
others(23): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0027g0011
a0001c0002t0002g0075
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0056g0096
a0003c0005t0001g0148
26 HG00639.hp1
HG01071.hp2
HG01109.hp2
others(23): Show 
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02257.hp2
HG02258.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03704.hp1
NA19009.hp2
NA19030.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-20479_193-2047
others(7): Show 
c.193-20479_193-20477delTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156488098
chr5:156488098 GTTTT
GTTTT
G
G
11 a0001c0001t0001g0008
a0001c0001t0009g0036
a0001c0001t0009g0067
others(8): Show 
a0001c0001t0001g0008
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0002t0010g0108
a0001c0002t0044g0026
a0001c0004t0001g0009
a0001c0004t0017g0007
11 HG01256.hp1
HG02083.hp1
HG02622.hp1
others(8): Show 
HG01256.hp1
HG02083.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp2
HG02895.hp1
HG02922.hp1
HG03225.hp2
HG03471.hp2
NA18522.hp1
NA19002.hp1
intron_variant MODIFIER c.193-20480_193-2047
others(8): Show 
c.193-20480_193-20477delTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156488098
chr5:156488098 GTTTTT
GTTTTT
G
G
8 a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0012g0010
others(5): Show 
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0016g0144
a0001c0002t0010g0001
a0001c0006t0018g0145
8 HG01243.hp1
HG01981.hp1
HG02145.hp1
others(5): Show 
HG01243.hp1
HG01981.hp1
HG02145.hp1
HG02257.hp1
HG02895.hp2
HG02897.hp1
NA18990.hp2
NA19043.hp1
intron_variant MODIFIER c.193-20481_193-2047
others(9): Show 
c.193-20481_193-20477delTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156488098
chr5:156488102 T
T
A
A
4 a0001c0001t0001g0147
a0001c0001t0047g0003
a0001c0002t0002g0061
others(1): Show 
a0001c0001t0001g0147
a0001c0001t0047g0003
a0001c0002t0002g0061
a0002c0003t0017g0014
4 HG02615.hp2
HG03486.hp2
HG04115.hp2
others(1): Show 
HG02615.hp2
HG03486.hp2
HG04115.hp2
NA20129.hp1
intron_variant MODIFIER c.193-20499T>A
c.193-20499T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488102
chr5:156488103 T
T
A
A
26 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
others(23): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0027g0011
a0001c0002t0002g0075
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0056g0096
a0003c0005t0001g0148
26 HG00639.hp1
HG01071.hp2
HG01109.hp2
others(23): Show 
HG00639.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02257.hp2
HG02258.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03704.hp1
NA19009.hp2
NA19030.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-20498T>A
c.193-20498T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488103
chr5:156488104 T
T
A
A
10 a0001c0001t0001g0008
a0001c0001t0009g0067
a0001c0001t0020g0017
others(7): Show 
a0001c0001t0001g0008
a0001c0001t0009g0067
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0002t0010g0108
a0001c0002t0044g0026
a0001c0004t0001g0009
a0001c0004t0017g0007
10 HG01256.hp1
HG02083.hp1
HG02622.hp1
others(7): Show 
HG01256.hp1
HG02083.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp2
HG02922.hp1
HG03225.hp2
HG03471.hp2
NA18522.hp1
NA19002.hp1
intron_variant MODIFIER c.193-20497T>A
c.193-20497T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488104
chr5:156488105 T
T
A
A
7 a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0012g0059
others(4): Show 
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0016g0144
a0001c0002t0010g0001
a0001c0006t0018g0145
7 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(4): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02895.hp2
HG02897.hp1
NA18990.hp2
NA19043.hp1
intron_variant MODIFIER c.193-20496T>A
c.193-20496T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488105
chr5:156488106 T
T
A
A
3 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0043g0139
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0043g0139
3 HG02559.hp2
HG02630.hp1
HG03579.hp1
HG02559.hp2
HG02630.hp1
HG03579.hp1
intron_variant MODIFIER c.193-20495T>A
c.193-20495T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488106
chr5:156488108 T
T
TG
TG
10 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(7): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0052g0111
10 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(7): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-20493_193-2049
others(5): Show 
c.193-20493_193-20492insG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488108
chr5:156488116 T
T
G
G
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-20485T>G
c.193-20485T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488116
chr5:156488124 T
T
A
A
16 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0146
others(13): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0033g0141
a0001c0001t0047g0003
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
16 HG01243.hp1
HG01243.hp2
HG02145.hp1
others(13): Show 
HG01243.hp1
HG01243.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG03139.hp1
HG03225.hp2
NA18522.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp2
intron_variant MODIFIER c.193-20477T>A
c.193-20477T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488124
chr5:156488124 T
T
TTTA
TTTA
5 a0001c0001t0041g0028
a0001c0002t0002g0062
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0041g0028
a0001c0002t0002g0062
a0001c0002t0050g0072
a0001c0002t0055g0091
a0001c0002t0057g0110
5 HG00558.hp1
HG00558.hp2
HG02055.hp1
others(2): Show 
HG00558.hp1
HG00558.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-20477_193-2047
others(7): Show 
c.193-20477_193-20476insTTA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488124
chr5:156488124 T
T
TTTTA
TTTTA
10 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(7): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0008g0105
a0001c0002t0053g0085
10 HG01891.hp1
HG02083.hp2
HG03453.hp1
others(7): Show 
HG01891.hp1
HG02083.hp2
HG03453.hp1
NA18966.hp1
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-20477_193-2047
others(8): Show 
c.193-20477_193-20476insTTTA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488124
chr5:156488815 T
T
G
G
103 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(100): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
103 HG00639.hp1
HG01070.hp2
HG01071.hp2
others(100): Show 
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-19786T>G
c.193-19786T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488815
chr5:156488840 C
C
T
T
8 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0033g0141
a0001c0006t0018g0145
8 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(5): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02622.hp1
HG03225.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.193-19761C>T
c.193-19761C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488840
chr5:156488926 A
A
G
G
2 a0001c0001t0001g0054
a0001c0001t0009g0067
a0001c0001t0001g0054
a0001c0001t0009g0067
2 HG02622.hp2
HG02723.hp2
HG02622.hp2
HG02723.hp2
intron_variant MODIFIER c.193-19675A>G
c.193-19675A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156488926
chr5:156489069 G
G
T
T
3 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
3 HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.193-19532G>T
c.193-19532G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156489069
chr5:156489122 A
A
G
G
1 a0001c0001t0001g0025
a0001c0001t0001g0025
1 HG03139.hp1
HG03139.hp1
intron_variant MODIFIER c.193-19479A>G
c.193-19479A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156489122
chr5:156489499 T
T
G
G
3 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02615.hp1
NA18906.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-19102T>G
c.193-19102T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156489499
chr5:156490002 CAA
CAA
C
C
20 a0001c0001t0001g0008
a0001c0001t0001g0052
a0001c0001t0001g0058
others(17): Show 
a0001c0001t0001g0008
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0033g0141
a0001c0001t0043g0139
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
20 HG01243.hp1
HG02145.hp1
HG02257.hp1
others(17): Show 
HG01243.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG03139.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp1
NA18990.hp2
NA19002.hp1
NA19043.hp1
intron_variant MODIFIER c.193-18597_193-1859
others(6): Show 
c.193-18597_193-18596delAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156490002
chr5:156490184 C
C
G
G
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-18417C>G
c.193-18417C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156490184
chr5:156490224 T
T
A
A
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-18377T>A
c.193-18377T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156490224
chr5:156490277 C
C
T
T
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-18324C>T
c.193-18324C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156490277
chr5:156490363 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-18238G>A
c.193-18238G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156490363
chr5:156490487 CA
CA
C
C
75 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(72): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0014g0055
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0092
a0001c0002t0004g0113
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0094
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0112
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0002c0003t0003g0140
a0004c0007t0020g0012
75 HG00558.hp1
HG00558.hp2
HG00639.hp2
others(72): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.193-18101delA
c.193-18101delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156490487
chr5:156490487 CAA
CAA
C
C
50 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
others(47): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0002t0002g0075
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
50 HG00639.hp1
HG01109.hp2
HG01243.hp1
others(47): Show 
HG00639.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18990.hp2
NA19002.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-18102_193-1810
others(6): Show 
c.193-18102_193-18101delAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156490487
chr5:156491507 T
T
G
G
3 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
3 HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.193-17094T>G
c.193-17094T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156491507
chr5:156491550 C
C
G
G
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0004g0092
a0001c0002t0008g0076
a0001c0002t0008g0105
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp1
HG00558.hp2
HG01891.hp1
others(15): Show 
HG00558.hp1
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03130.hp2
HG03453.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.193-17051C>G
c.193-17051C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156491550
chr5:156491720 G
G
A
A
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.193-16881G>A
c.193-16881G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156491720
chr5:156491758 C
C
T
T
16 a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
others(13): Show 
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
16 HG01070.hp1
HG01071.hp1
HG01081.hp2
others(13): Show 
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02735.hp2
HG03239.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.193-16843C>T
c.193-16843C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156491758
chr5:156491963 C
C
T
T
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-16638C>T
c.193-16638C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156491963
chr5:156491968 A
A
G
G
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-16633A>G
c.193-16633A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156491968
chr5:156491986 C
C
T
T
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-16615C>T
c.193-16615C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156491986
chr5:156492106 G
G
A
A
5 a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
others(2): Show 
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
5 HG01081.hp1
HG02698.hp1
HG02897.hp2
others(2): Show 
HG01081.hp1
HG02698.hp1
HG02897.hp2
HG03704.hp2
NA20805.hp1
intron_variant MODIFIER c.193-16495G>A
c.193-16495G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156492106
chr5:156492150 G
G
A
A
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-16451G>A
c.193-16451G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156492150
chr5:156492373 C
C
T
T
1 a0001c0001t0001g0050
a0001c0001t0001g0050
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.193-16228C>T
c.193-16228C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156492373
chr5:156492455 C
C
T
T
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.193-16146C>T
c.193-16146C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156492455
chr5:156492570 T
T
A
A
1 a0001c0002t0051g0099
a0001c0002t0051g0099
1 NA19066.hp2
NA19066.hp2
intron_variant MODIFIER c.193-16031T>A
c.193-16031T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156492570
chr5:156492700 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-15901G>A
c.193-15901G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156492700
chr5:156492820 T
T
C
C
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-15781T>C
c.193-15781T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156492820
chr5:156492963 T
T
C
C
1 a0001c0001t0001g0019
a0001c0001t0001g0019
1 HG01081.hp1
HG01081.hp1
intron_variant MODIFIER c.193-15638T>C
c.193-15638T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156492963
chr5:156493237 C
C
T
T
52 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
others(49): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
52 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(49): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.193-15364C>T
c.193-15364C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156493237
chr5:156493737 A
A
G
G
3 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02615.hp1
NA18906.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-14864A>G
c.193-14864A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156493737
chr5:156493740 T
T
C
C
14 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(11): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
14 HG00639.hp2
HG01981.hp1
HG02258.hp2
others(11): Show 
HG00639.hp2
HG01981.hp1
HG02258.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-14861T>C
c.193-14861T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156493740
chr5:156493902 G
G
A
A
64 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0050
others(61): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
64 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(61): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-14699G>A
c.193-14699G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156493902
chr5:156493917 G
G
A
A
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-14684G>A
c.193-14684G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156493917
chr5:156494001 T
T
C
C
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-14600T>C
c.193-14600T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156494001
chr5:156494033 C
C
T
T
3 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
3 HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.193-14568C>T
c.193-14568C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156494033
chr5:156494087 T
T
A
A
96 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
others(93): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0080
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
96 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(93): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-14514T>A
c.193-14514T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156494087
chr5:156494110 G
G
A
A
14 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(11): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
14 HG00639.hp2
HG01981.hp1
HG02258.hp2
others(11): Show 
HG00639.hp2
HG01981.hp1
HG02258.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-14491G>A
c.193-14491G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156494110
chr5:156494210 A
A
G
G
1 a0001c0001t0013g0057
a0001c0001t0013g0057
1 HG03225.hp1
HG03225.hp1
intron_variant MODIFIER c.193-14391A>G
c.193-14391A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156494210
chr5:156494297 A
A
T
T
15 a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
others(12): Show 
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG03239.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.193-14304A>T
c.193-14304A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156494297
chr5:156494315 C
C
CT
CT
14 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(11): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
14 HG00639.hp2
HG01981.hp1
HG02258.hp2
others(11): Show 
HG00639.hp2
HG01981.hp1
HG02258.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-14278dupT
c.193-14278dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156494315
chr5:156494326 T
T
A
A
14 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(11): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
14 HG00639.hp2
HG01981.hp1
HG02258.hp2
others(11): Show 
HG00639.hp2
HG01981.hp1
HG02258.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-14275T>A
c.193-14275T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156494326
chr5:156494335 A
A
AT
AT
15 a0001c0001t0001g0050
a0001c0001t0003g0018
a0001c0001t0006g0037
others(12): Show 
a0001c0001t0001g0050
a0001c0001t0003g0018
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0005g0082
a0001c0002t0015g0086
a0001c0002t0052g0111
15 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(12): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02809.hp2
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-14250dupT
c.193-14250dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156494335
chr5:156494335 AT
AT
A
A
57 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0030g0135
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0080
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
57 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(54): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01978.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp2
HG03704.hp1
NA18522.hp1
NA18953.hp1
NA18964.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-14250delT
c.193-14250delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156494335
chr5:156494365 C
C
T
T
14 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(11): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
14 HG00639.hp2
HG01981.hp1
HG02258.hp2
others(11): Show 
HG00639.hp2
HG01981.hp1
HG02258.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-14236C>T
c.193-14236C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156494365
chr5:156494475 T
T
C
C
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.193-14126T>C
c.193-14126T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156494475
chr5:156494504 T
T
G
G
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-14097T>G
c.193-14097T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156494504
chr5:156494623 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-13978G>A
c.193-13978G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156494623
chr5:156494984 G
G
A
A
1 a0001c0002t0004g0104
a0001c0002t0004g0104
1 HG02056.hp2
HG02056.hp2
intron_variant MODIFIER c.193-13617G>A
c.193-13617G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156494984
chr5:156495089 C
C
T
T
29 a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
others(26): Show 
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0003c0005t0001g0148
29 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(26): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03239.hp1
HG03471.hp2
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-13512C>T
c.193-13512C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156495089
chr5:156495162 G
G
T
T
15 a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
others(12): Show 
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG03239.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.193-13439G>T
c.193-13439G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156495162
chr5:156495358 A
A
G
G
50 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
others(47): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0150
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
50 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(47): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02615.hp1
HG02723.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.193-13243A>G
c.193-13243A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156495358
chr5:156495423 A
A
G
G
17 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(14): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0053g0085
a0001c0002t0055g0091
17 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(14): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03130.hp2
HG03453.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.193-13178A>G
c.193-13178A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156495423
chr5:156495536 G
G
A
A
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.193-13065G>A
c.193-13065G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156495536
chr5:156495678 A
A
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.193-12923A>C
c.193-12923A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156495678
chr5:156495679 A
A
C
C
1 a0001c0002t0056g0096
a0001c0002t0056g0096
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.193-12922A>C
c.193-12922A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156495679
chr5:156495890 T
T
C
C
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.193-12711T>C
c.193-12711T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156495890
chr5:156496040 A
A
T
T
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-12561A>T
c.193-12561A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156496040
chr5:156496515 A
A
G
G
3 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
3 HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.193-12086A>G
c.193-12086A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156496515
chr5:156496622 C
C
G
G
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-11979C>G
c.193-11979C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156496622
chr5:156496834 T
T
C
C
46 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
others(43): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
46 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(43): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03704.hp1
NA18522.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-11767T>C
c.193-11767T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156496834
chr5:156496945 C
C
A
A
1 a0001c0002t0002g0087
a0001c0002t0002g0087
1 NA19057.hp1
NA19057.hp1
intron_variant MODIFIER c.193-11656C>A
c.193-11656C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156496945
chr5:156497020 G
G
C
C
49 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
others(46): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0150
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
49 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(46): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.193-11581G>C
c.193-11581G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156497020
chr5:156497057 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.193-11544G>A
c.193-11544G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156497057
chr5:156497170 A
A
ACT
ACT
4 a0001c0001t0003g0013
a0001c0001t0009g0036
a0001c0001t0012g0010
others(1): Show 
a0001c0001t0003g0013
a0001c0001t0009g0036
a0001c0001t0012g0010
a0002c0003t0017g0014
4 HG01981.hp1
HG02895.hp1
HG04115.hp2
others(1): Show 
HG01981.hp1
HG02895.hp1
HG04115.hp2
NA20805.hp1
intron_variant MODIFIER c.193-11396_193-1139
others(6): Show 
c.193-11396_193-11395dupCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156497170
chr5:156497170 ACT
ACT
A
A
3 a0001c0001t0046g0121
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0001t0046g0121
a0001c0002t0058g0089
a0001c0002t0060g0074
3 HG01261.hp2
HG02145.hp2
HG02965.hp1
HG01261.hp2
HG02145.hp2
HG02965.hp1
intron_variant MODIFIER c.193-11396_193-1139
others(6): Show 
c.193-11396_193-11395delCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156497170
chr5:156497170 ACTCT
ACTCT
A
A
17 a0001c0001t0001g0015
a0001c0001t0001g0058
a0001c0001t0001g0116
others(14): Show 
a0001c0001t0001g0015
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0029g0024
a0001c0001t0041g0028
a0001c0002t0002g0077
a0001c0002t0004g0079
a0001c0002t0008g0006
a0001c0002t0010g0094
a0001c0002t0015g0081
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0002t0059g0002
a0004c0007t0020g0012
17 HG01516.hp2
HG02040.hp1
HG02055.hp1
others(14): Show 
HG01516.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02129.hp2
HG02145.hp1
HG02559.hp2
HG02615.hp1
HG02717.hp2
HG03098.hp2
HG03579.hp1
NA18906.hp2
NA18959.hp1
NA18966.hp2
NA19003.hp2
NA19010.hp2
NA20300.hp1
intron_variant MODIFIER c.193-11398_193-1139
others(8): Show 
c.193-11398_193-11395delCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156497170
chr5:156497170 ACTCTCTC
others(1): Show 
ACTCTCTCT
A
A
6 a0001c0001t0003g0018
a0001c0001t0006g0066
a0001c0001t0021g0027
others(3): Show 
a0001c0001t0003g0018
a0001c0001t0006g0066
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0032g0020
a0001c0001t0042g0065
6 HG02056.hp1
HG02922.hp2
HG02965.hp2
others(3): Show 
HG02056.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03490.hp1
intron_variant MODIFIER c.193-11402_193-1139
others(12): Show 
c.193-11402_193-11395delCTCTCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156497170
chr5:156497170 ACTCTCTC
others(3): Show 
ACTCTCTCTCT
A
A
13 a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
others(10): Show 
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0013g0057
a0001c0001t0036g0043
a0001c0002t0008g0105
a0001c0002t0052g0111
a0001c0006t0018g0145
13 HG02257.hp1
HG02258.hp2
HG02723.hp2
others(10): Show 
HG02257.hp1
HG02258.hp2
HG02723.hp2
HG02809.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19009.hp1
NA19043.hp1
NA19057.hp2
NA19090.hp1
intron_variant MODIFIER c.193-11404_193-1139
others(14): Show 
c.193-11404_193-11395delCTCTCTCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156497170
chr5:156497170 ACTCTCTC
others(5): Show 
ACTCTCTCTCTCT
A
A
33 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
others(30): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0125
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
33 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(30): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02083.hp2
HG02155.hp2
HG02615.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03486.hp1
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19011.hp2
NA19043.hp2
NA19066.hp1
NA19066.hp2
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.193-11406_193-1139
others(16): Show 
c.193-11406_193-11395delCTCTCTCTCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156497170
chr5:156497170 ACTCTCTC
others(11): Show 
ACTCTCTCTCTCTCTCTCT
A
A
50 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
others(47): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
50 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(47): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03704.hp1
NA18522.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-11412_193-1139
others(22): Show 
c.193-11412_193-11395delCTCTCTCTCTCTCTCTCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156497170
chr5:156497233 A
A
G
G
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-11368A>G
c.193-11368A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156497233
chr5:156497342 C
C
T
T
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-11259C>T
c.193-11259C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156497342
chr5:156497623 T
T
TTC
TTC
34 a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
others(31): Show 
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0038g0044
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0003c0005t0001g0148
34 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(31): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-10957_193-1095
others(6): Show 
c.193-10957_193-10956dupTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156497623
chr5:156497623 TTC
TTC
T
T
30 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0122
others(27): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
a0001c0002t0053g0085
a0001c0002t0055g0091
30 HG00558.hp2
HG01243.hp1
HG01243.hp2
others(27): Show 
HG00558.hp2
HG01243.hp1
HG01243.hp2
HG01891.hp1
HG01981.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG03139.hp1
HG03225.hp2
HG03453.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp1
NA20300.hp2
intron_variant MODIFIER c.193-10957_193-1095
others(6): Show 
c.193-10957_193-10956delTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156497623
chr5:156497644 T
T
A
A
5 a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0009g0067
others(2): Show 
a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0009g0067
a0001c0004t0001g0009
a0001c0004t0017g0007
5 HG02630.hp2
HG02723.hp2
HG02922.hp1
others(2): Show 
HG02630.hp2
HG02723.hp2
HG02922.hp1
HG03486.hp1
NA18522.hp1
intron_variant MODIFIER c.193-10957T>A
c.193-10957T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156497644
chr5:156497644 T
T
TCA
TCA
6 a0001c0001t0001g0050
a0001c0001t0001g0147
a0001c0001t0046g0121
others(3): Show 
a0001c0001t0001g0050
a0001c0001t0001g0147
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0002t0059g0002
a0004c0007t0020g0012
6 HG00639.hp2
HG01261.hp2
HG01516.hp2
others(3): Show 
HG00639.hp2
HG01261.hp2
HG01516.hp2
HG02615.hp2
NA18522.hp2
NA18959.hp1
intron_variant MODIFIER c.193-10938_193-1093
others(6): Show 
c.193-10938_193-10937dupCA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156497644
chr5:156497646 A
A
T
T
1 a0001c0002t0058g0089
a0001c0002t0058g0089
1 HG02145.hp2
HG02145.hp2
intron_variant MODIFIER c.193-10955A>T
c.193-10955A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156497646
chr5:156497860 G
G
C
C
46 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
others(43): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
46 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(43): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03704.hp1
NA18522.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-10741G>C
c.193-10741G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156497860
chr5:156498230 CT
CT
C
C
54 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
others(51): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
54 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(51): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03704.hp1
NA18522.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-10363delT
c.193-10363delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156498230
chr5:156498262 C
C
CA
CA
21 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0122
others(18): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0122
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0002t0008g0105
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0058g0089
a0001c0004t0001g0009
a0001c0004t0017g0007
21 HG01243.hp1
HG01243.hp2
HG01981.hp2
others(18): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp2
HG02083.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp2
NA18522.hp1
NA19030.hp2
NA19043.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
intron_variant MODIFIER c.193-10323dupA
c.193-10323dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156498262
chr5:156498262 C
C
CAAA
CAAA
29 a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
others(26): Show 
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0038g0044
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0056g0096
a0003c0005t0001g0148
29 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(26): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03486.hp2
HG03704.hp1
NA19030.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-10325_193-1032
others(7): Show 
c.193-10325_193-10323dupAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156498262
chr5:156498544 G
G
C
C
1 a0001c0002t0015g0081
a0001c0002t0015g0081
1 NA19003.hp2
NA19003.hp2
intron_variant MODIFIER c.193-10057G>C
c.193-10057G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156498544
chr5:156498755 A
A
G
G
1 a0001c0001t0001g0054
a0001c0001t0001g0054
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.193-9846A>G
c.193-9846A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156498755
chr5:156498935 C
C
CCT
CCT
15 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(12): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0053g0085
a0001c0002t0055g0091
15 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(12): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.193-9666_193-9665i
others(4): Show 
c.193-9666_193-9665insCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156498935
chr5:156498935 C
C
CCTGT
CCTGT
10 a0001c0001t0001g0147
a0001c0001t0009g0049
a0001c0001t0009g0067
others(7): Show 
a0001c0001t0001g0147
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0014g0048
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0002t0002g0109
a0001c0002t0010g0001
a0001c0002t0010g0108
10 HG02071.hp1
HG02615.hp2
HG02698.hp2
others(7): Show 
HG02071.hp1
HG02615.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG03139.hp2
NA18990.hp2
NA19002.hp1
NA19030.hp2
NA20129.hp2
intron_variant MODIFIER c.193-9666_193-9665i
others(6): Show 
c.193-9666_193-9665insCTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156498935
chr5:156498935 C
C
CCTGTGT
CCTGTGT
14 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0150
others(11): Show 
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
14 HG00639.hp2
HG02257.hp2
HG02258.hp2
others(11): Show 
HG00639.hp2
HG02257.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-9666_193-9665i
others(8): Show 
c.193-9666_193-9665insCTGTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156498935
chr5:156498935 C
C
CCTGTGTG
others(1): Show 
CCTGTGTGT
23 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0068
others(20): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0004t0001g0009
a0001c0004t0017g0007
23 HG01071.hp2
HG01109.hp2
HG01243.hp1
others(20): Show 
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
intron_variant MODIFIER c.193-9666_193-9665i
others(10): Show 
c.193-9666_193-9665insCTGTGTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156498935
chr5:156498935 C
C
CCTGTGTG
others(3): Show 
CCTGTGTGTGT
17 a0001c0001t0005g0047
a0001c0001t0012g0059
a0001c0001t0012g0060
others(14): Show 
a0001c0001t0005g0047
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0038g0044
a0001c0001t0043g0139
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0024g0100
a0001c0002t0056g0096
a0003c0005t0001g0148
17 HG00639.hp1
HG01258.hp1
HG01258.hp2
others(14): Show 
HG00639.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02630.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG03239.hp1
HG03704.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-9666_193-9665i
others(12): Show 
c.193-9666_193-9665insCTGTGTGTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156498935
chr5:156498935 C
C
CCTGTGTG
others(5): Show 
CCTGTGTGTGTGT
3 a0001c0001t0003g0119
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0003g0119
a0001c0001t0014g0132
a0001c0001t0016g0120
3 HG01070.hp1
HG01071.hp1
HG02735.hp2
HG01070.hp1
HG01071.hp1
HG02735.hp2
intron_variant MODIFIER c.193-9666_193-9665i
others(14): Show 
c.193-9666_193-9665insCTGTGTGTGTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156498935
chr5:156498935 C
C
CGT
CGT
2 a0001c0002t0002g0093
a0001c0002t0058g0089
a0001c0002t0002g0093
a0001c0002t0058g0089
2 HG02145.hp2
NA18953.hp2
HG02145.hp2
NA18953.hp2
intron_variant MODIFIER c.193-9639_193-9638d
others(4): Show 
c.193-9639_193-9638dupGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156498935
chr5:156498935 CGT
CGT
C
C
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-9639_193-9638d
others(4): Show 
c.193-9639_193-9638delGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156498935
chr5:156498935 CGTGT
CGTGT
C
C
2 a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0037g0042
a0001c0001t0041g0028
2 HG02615.hp1
NA19043.hp2
HG02615.hp1
NA19043.hp2
intron_variant MODIFIER c.193-9641_193-9638d
others(6): Show 
c.193-9641_193-9638delGTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156498935
chr5:156498935 CGTGTGTG
others(1): Show 
CGTGTGTGT
C
C
13 a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
others(10): Show 
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
13 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(10): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG03239.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.193-9645_193-9638d
others(10): Show 
c.193-9645_193-9638delGTGTGTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156498935
chr5:156498938 G
G
C
C
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-9663G>C
c.193-9663G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156498938
chr5:156498940 G
G
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.193-9661G>C
c.193-9661G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156498940
chr5:156498944 G
G
C
C
13 a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
others(10): Show 
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
13 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(10): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG03239.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.193-9657G>C
c.193-9657G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156498944
chr5:156499039 CT
CT
C
C
46 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
others(43): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0150
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
46 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(43): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.193-9560delT
c.193-9560delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156499039
chr5:156499177 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.193-9424A>G
c.193-9424A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156499177
chr5:156499260 G
G
C
C
14 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(11): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
14 HG00639.hp2
HG01981.hp1
HG02258.hp2
others(11): Show 
HG00639.hp2
HG01981.hp1
HG02258.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-9341G>C
c.193-9341G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156499260
chr5:156499366 A
A
G
G
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.193-9235A>G
c.193-9235A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156499366
chr5:156499397 G
G
A
A
2 a0001c0001t0001g0050
a0001c0001t0048g0053
a0001c0001t0001g0050
a0001c0001t0048g0053
2 HG00639.hp2
NA18522.hp2
HG00639.hp2
NA18522.hp2
intron_variant MODIFIER c.193-9204G>A
c.193-9204G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156499397
chr5:156499534 G
G
A
A
97 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
others(94): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0080
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
97 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(94): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-9067G>A
c.193-9067G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156499534
chr5:156499652 G
G
A
A
97 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
others(94): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0080
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
97 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(94): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-8949G>A
c.193-8949G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156499652
chr5:156500139 C
C
G
G
2 a0001c0001t0001g0050
a0001c0001t0048g0053
a0001c0001t0001g0050
a0001c0001t0048g0053
2 HG00639.hp2
NA18522.hp2
HG00639.hp2
NA18522.hp2
intron_variant MODIFIER c.193-8462C>G
c.193-8462C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156500139
chr5:156500289 G
G
T
T
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.193-8312G>T
c.193-8312G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156500289
chr5:156500332 C
C
T
T
8 a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0032g0020
others(5): Show 
a0001c0001t0001g0015
a0001c0001t0003g0018
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0002t0008g0006
a0001c0002t0010g0094
a0001c0002t0059g0002
a0004c0007t0020g0012
8 HG01261.hp2
HG01516.hp2
HG02040.hp1
others(5): Show 
HG01261.hp2
HG01516.hp2
HG02040.hp1
HG02056.hp1
HG02129.hp2
HG03490.hp1
NA18959.hp1
NA19010.hp2
intron_variant MODIFIER c.193-8269C>T
c.193-8269C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156500332
chr5:156500533 G
G
A
A
16 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
others(13): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0090
a0001c0002t0024g0100
a0001c0002t0056g0096
a0003c0005t0001g0148
16 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(13): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02735.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-8068G>A
c.193-8068G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156500533
chr5:156500684 G
G
A
A
3 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0069
a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0069
3 HG01070.hp2
HG01169.hp1
NA19240.hp2
HG01070.hp2
HG01169.hp1
NA19240.hp2
intron_variant MODIFIER c.193-7917G>A
c.193-7917G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156500684
chr5:156501020 C
C
T
T
3 a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0023g0112
a0001c0002t0002g0061
a0001c0002t0004g0113
a0001c0002t0023g0112
3 HG01071.hp2
HG03098.hp1
HG03486.hp2
HG01071.hp2
HG03098.hp1
HG03486.hp2
intron_variant MODIFIER c.193-7581C>T
c.193-7581C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156501020
chr5:156501295 G
G
A
A
6 a0001c0001t0001g0015
a0001c0001t0046g0121
a0001c0002t0008g0006
others(3): Show 
a0001c0001t0001g0015
a0001c0001t0046g0121
a0001c0002t0008g0006
a0001c0002t0010g0094
a0001c0002t0059g0002
a0004c0007t0020g0012
6 HG01261.hp2
HG01516.hp2
HG02040.hp1
others(3): Show 
HG01261.hp2
HG01516.hp2
HG02040.hp1
HG02129.hp2
NA18959.hp1
NA19010.hp2
intron_variant MODIFIER c.193-7306G>A
c.193-7306G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156501295
chr5:156501451 G
G
A
A
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-7150G>A
c.193-7150G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156501451
chr5:156501454 G
G
T
T
2 a0001c0002t0002g0061
a0001c0002t0023g0112
a0001c0002t0002g0061
a0001c0002t0023g0112
2 HG03098.hp1
HG03486.hp2
HG03098.hp1
HG03486.hp2
intron_variant MODIFIER c.193-7147G>T
c.193-7147G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156501454
chr5:156501550 C
C
A
A
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.193-7051C>A
c.193-7051C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156501550
chr5:156501551 A
A
T
T
1 a0001c0001t0001g0058
a0001c0001t0001g0058
1 HG02559.hp2
HG02559.hp2
intron_variant MODIFIER c.193-7050A>T
c.193-7050A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156501551
chr5:156501773 C
C
A
A
1 a0001c0002t0015g0078
a0001c0002t0015g0078
1 HG02155.hp1
HG02155.hp1
intron_variant MODIFIER c.193-6828C>A
c.193-6828C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156501773
chr5:156501780 C
C
T
T
13 a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
others(10): Show 
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
13 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(10): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG03239.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.193-6821C>T
c.193-6821C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156501780
chr5:156501884 C
C
T
T
12 a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
others(9): Show 
a0001c0001t0001g0050
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
12 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(9): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-6717C>T
c.193-6717C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156501884
chr5:156501885 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.193-6716G>A
c.193-6716G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156501885
chr5:156501988 G
G
A
A
3 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
3 HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.193-6613G>A
c.193-6613G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156501988
chr5:156502038 C
C
CT
CT
12 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(9): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0018g0039
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
12 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(9): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19030.hp2
intron_variant MODIFIER c.193-6548dupT
c.193-6548dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156502038
chr5:156502038 CT
CT
C
C
10 a0001c0001t0001g0008
a0001c0001t0016g0144
a0001c0001t0020g0017
others(7): Show 
a0001c0001t0001g0008
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0002t0002g0109
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0004t0001g0009
a0001c0004t0017g0007
10 HG01243.hp1
HG02071.hp1
HG02622.hp1
others(7): Show 
HG01243.hp1
HG02071.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03225.hp2
NA18522.hp1
NA18990.hp2
NA19002.hp1
NA19043.hp2
intron_variant MODIFIER c.193-6548delT
c.193-6548delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156502038
chr5:156502040 T
T
C
C
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-6561T>C
c.193-6561T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156502040
chr5:156502041 T
T
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.193-6560T>C
c.193-6560T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156502041
chr5:156502069 C
C
T
T
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.193-6532C>T
c.193-6532C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156502069
chr5:156502147 C
C
T
T
2 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0001g0050
a0001c0001t0009g0067
2 HG02723.hp2
NA18522.hp2
HG02723.hp2
NA18522.hp2
intron_variant MODIFIER c.193-6454C>T
c.193-6454C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156502147
chr5:156502198 C
C
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.193-6403C>A
c.193-6403C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156502198
chr5:156502269 A
A
G
G
1 a0001c0002t0015g0086
a0001c0002t0015g0086
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.193-6332A>G
c.193-6332A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156502269
chr5:156502318 T
T
A
A
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.193-6283T>A
c.193-6283T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156502318
chr5:156502542 C
C
G
G
3 a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0021g0027
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0021g0027
3 HG02055.hp2
HG02717.hp2
HG02965.hp2
HG02055.hp2
HG02717.hp2
HG02965.hp2
intron_variant MODIFIER c.193-6059C>G
c.193-6059C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156502542
chr5:156502571 G
G
C
C
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-6030G>C
c.193-6030G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156502571
chr5:156502867 G
G
T
T
51 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
others(48): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
51 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(48): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03704.hp1
NA18522.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-5734G>T
c.193-5734G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156502867
chr5:156503537 G
G
C
C
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.193-5064G>C
c.193-5064G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156503537
chr5:156503578 G
G
C
C
4 a0001c0001t0029g0024
a0001c0001t0041g0028
a0001c0002t0050g0072
others(1): Show 
a0001c0001t0029g0024
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
4 HG02055.hp1
HG02615.hp1
HG03098.hp2
others(1): Show 
HG02055.hp1
HG02615.hp1
HG03098.hp2
NA18906.hp2
intron_variant MODIFIER c.193-5023G>C
c.193-5023G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156503578
chr5:156503597 C
C
T
T
13 a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
others(10): Show 
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
13 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(10): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG03239.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.193-5004C>T
c.193-5004C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156503597
chr5:156503602 G
G
A
A
53 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
others(50): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
53 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(50): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.193-4999G>A
c.193-4999G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156503602
chr5:156503737 A
A
G
G
2 a0001c0002t0002g0098
a0001c0002t0023g0071
a0001c0002t0002g0098
a0001c0002t0023g0071
2 HG01981.hp2
NA18964.hp1
HG01981.hp2
NA18964.hp1
intron_variant MODIFIER c.193-4864A>G
c.193-4864A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156503737
chr5:156503838 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-4763G>A
c.193-4763G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156503838
chr5:156503866 T
T
G
G
35 a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
others(32): Show 
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0038g0044
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0003c0005t0001g0148
35 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(32): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-4735T>G
c.193-4735T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156503866
chr5:156503887 T
T
C
C
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.193-4714T>C
c.193-4714T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156503887
chr5:156503916 T
T
C
C
35 a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
others(32): Show 
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0038g0044
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0003c0005t0001g0148
35 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(32): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03704.hp1
NA18990.hp2
NA19030.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-4685T>C
c.193-4685T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156503916
chr5:156503935 G
G
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.193-4666G>T
c.193-4666G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156503935
chr5:156504162 C
C
A
A
5 a0001c0001t0001g0025
a0001c0001t0047g0003
a0001c0002t0011g0083
others(2): Show 
a0001c0001t0001g0025
a0001c0001t0047g0003
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
5 HG01243.hp2
HG02258.hp1
HG03139.hp1
others(2): Show 
HG01243.hp2
HG02258.hp1
HG03139.hp1
NA20129.hp1
NA20300.hp2
intron_variant MODIFIER c.193-4439C>A
c.193-4439C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156504162
chr5:156504198 GCT
GCT
G
G
2 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0001g0050
a0001c0001t0009g0067
2 HG02723.hp2
NA18522.hp2
HG02723.hp2
NA18522.hp2
intron_variant MODIFIER c.193-4400_193-4399d
others(4): Show 
c.193-4400_193-4399delCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504198
chr5:156504207 C
C
CA
CA
8 a0001c0001t0001g0150
a0001c0001t0012g0059
a0001c0001t0012g0060
others(5): Show 
a0001c0001t0001g0150
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0029g0024
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0058g0089
a0002c0003t0017g0014
8 HG00639.hp2
HG02145.hp2
HG02895.hp2
others(5): Show 
HG00639.hp2
HG02145.hp2
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03130.hp2
HG03486.hp1
HG04115.hp2
intron_variant MODIFIER c.193-4379dupA
c.193-4379dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504207
chr5:156504384 G
G
A
A
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-4217G>A
c.193-4217G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156504384
chr5:156504385 T
T
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.193-4216T>G
c.193-4216T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156504385
chr5:156504390 GTGTA
GTGTA
G
G
4 a0001c0001t0001g0008
a0001c0001t0001g0052
a0001c0004t0001g0009
others(1): Show 
a0001c0001t0001g0008
a0001c0001t0001g0052
a0001c0004t0001g0009
a0001c0004t0017g0007
4 HG02257.hp2
HG02630.hp2
HG02922.hp1
others(1): Show 
HG02257.hp2
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.193-4209_193-4206d
others(6): Show 
c.193-4209_193-4206delGTAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504390
chr5:156504390 GTGTATA
GTGTATA
G
G
7 a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0002t0004g0104
others(4): Show 
a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0002t0004g0104
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0044g0026
7 HG02056.hp2
HG02083.hp1
HG02698.hp2
others(4): Show 
HG02056.hp2
HG02083.hp1
HG02698.hp2
HG03471.hp2
NA18990.hp2
NA19002.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-4209_193-4204d
others(8): Show 
c.193-4209_193-4204delGTATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504390
chr5:156504390 GTGTATAT
others(1): Show 
GTGTATATA
G
G
31 a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
others(28): Show 
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0043g0139
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0056g0096
a0003c0005t0001g0148
31 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(28): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02071.hp2
HG02155.hp1
HG02630.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03239.hp1
HG03486.hp2
HG03704.hp1
NA19030.hp1
NA19240.hp1
intron_variant MODIFIER c.193-4209_193-4202d
others(10): Show 
c.193-4209_193-4202delGTATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504390
chr5:156504390 GTGTATAT
others(3): Show 
GTGTATATATA
G
G
2 a0001c0001t0020g0017
a0001c0001t0033g0141
a0001c0001t0020g0017
a0001c0001t0033g0141
2 HG02622.hp1
HG03225.hp2
HG02622.hp1
HG03225.hp2
intron_variant MODIFIER c.193-4209_193-4200d
others(12): Show 
c.193-4209_193-4200delGTATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504390
chr5:156504390 GTGTATAT
others(7): Show 
GTGTATATATATATA
G
G
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-4209_193-4196d
others(16): Show 
c.193-4209_193-4196delGTATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504390
chr5:156504390 GTGTATAT
others(13): Show 
GTGTATATATATATATATATA
G
G
13 a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
others(10): Show 
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
13 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(10): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG03239.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.193-4209_193-4190d
others(22): Show 
c.193-4209_193-4190delGTATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504390
chr5:156504392 G
G
GTATATA
GTATATA
2 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0001g0050
a0001c0001t0009g0067
2 HG02723.hp2
NA18522.hp2
HG02723.hp2
NA18522.hp2
intron_variant MODIFIER c.193-4181_193-4176d
others(8): Show 
c.193-4181_193-4176dupATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504392 G
G
GTATATAT
others(7): Show 
GTATATATATATATA
2 a0001c0001t0006g0038
a0001c0001t0029g0024
a0001c0001t0006g0038
a0001c0001t0029g0024
2 HG02809.hp1
HG03098.hp2
HG02809.hp1
HG03098.hp2
intron_variant MODIFIER c.193-4189_193-4176d
others(16): Show 
c.193-4189_193-4176dupATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504392 G
G
GTATATAT
others(9): Show 
GTATATATATATATATA
1 a0001c0001t0006g0037
a0001c0001t0006g0037
1 HG02258.hp2
HG02258.hp2
intron_variant MODIFIER c.193-4191_193-4176d
others(18): Show 
c.193-4191_193-4176dupATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504392 G
G
GTATATAT
others(11): Show 
GTATATATATATATATATA
6 a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
others(3): Show 
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0002t0052g0111
6 HG02970.hp1
HG03453.hp2
HG03471.hp1
others(3): Show 
HG02970.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA19043.hp2
intron_variant MODIFIER c.193-4193_193-4176d
others(20): Show 
c.193-4193_193-4176dupATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504392 G
G
GTATATAT
others(13): Show 
GTATATATATATATATATATA
1 a0001c0001t0013g0057
a0001c0001t0013g0057
1 HG03225.hp1
HG03225.hp1
intron_variant MODIFIER c.193-4195_193-4176d
others(22): Show 
c.193-4195_193-4176dupATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504392 G
G
GTATATAT
others(15): Show 
GTATATATATATATATATATATA
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.193-4197_193-4176d
others(24): Show 
c.193-4197_193-4176dupATATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504392 G
G
GTATATAT
others(17): Show 
GTATATATATATATATATATATATA
1 a0001c0001t0042g0065
a0001c0001t0042g0065
1 HG02922.hp2
HG02922.hp2
intron_variant MODIFIER c.193-4199_193-4176d
others(26): Show 
c.193-4199_193-4176dupATATATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504392 G
G
GTATATAT
others(23): Show 
GTATATATATATATATATATATATATATATA
1 a0001c0001t0022g0064
a0001c0001t0022g0064
1 HG03041.hp2
HG03041.hp2
intron_variant MODIFIER c.193-4205_193-4176d
others(32): Show 
c.193-4205_193-4176dupATATATATATATATATATATATATATAT
AT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504392 GTA
GTA
G
G
4 a0001c0001t0001g0019
a0001c0001t0003g0013
a0001c0001t0003g0022
others(1): Show 
a0001c0001t0001g0019
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0039g0004
4 HG01081.hp1
HG02897.hp2
HG04115.hp1
others(1): Show 
HG01081.hp1
HG02897.hp2
HG04115.hp1
NA20805.hp1
intron_variant MODIFIER c.193-4177_193-4176d
others(4): Show 
c.193-4177_193-4176delAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504392 GTATA
GTATA
G
G
12 a0001c0001t0001g0023
a0001c0001t0001g0117
a0001c0001t0001g0150
others(9): Show 
a0001c0001t0001g0023
a0001c0001t0001g0117
a0001c0001t0001g0150
a0001c0001t0003g0056
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0014g0055
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0060g0074
12 HG00558.hp1
HG01070.hp2
HG01169.hp1
others(9): Show 
HG00558.hp1
HG01070.hp2
HG01169.hp1
HG01981.hp1
HG02129.hp1
HG02717.hp2
HG02895.hp1
HG02965.hp1
HG03486.hp1
HG03704.hp2
NA18985.hp1
NA19240.hp2
intron_variant MODIFIER c.193-4179_193-4176d
others(6): Show 
c.193-4179_193-4176delATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504392 GTATATA
GTATATA
G
G
18 a0001c0001t0001g0015
a0001c0001t0001g0054
a0001c0001t0001g0058
others(15): Show 
a0001c0001t0001g0015
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0018
a0001c0001t0009g0142
a0001c0001t0021g0027
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0002t0002g0102
a0001c0002t0008g0006
a0001c0002t0010g0094
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0004c0007t0020g0012
18 HG01261.hp2
HG01516.hp2
HG02040.hp1
others(15): Show 
HG01261.hp2
HG01516.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02559.hp2
HG02622.hp2
HG02965.hp2
HG03490.hp1
HG03579.hp1
NA18959.hp1
NA19010.hp2
NA19043.hp1
NA19090.hp2
intron_variant MODIFIER c.193-4181_193-4176d
others(8): Show 
c.193-4181_193-4176delATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504392 GTATATAT
others(3): Show 
GTATATATATA
G
G
4 a0001c0001t0047g0003
a0001c0002t0011g0083
a0001c0002t0011g0084
others(1): Show 
a0001c0001t0047g0003
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
4 HG01243.hp2
HG02258.hp1
NA20129.hp1
others(1): Show 
HG01243.hp2
HG02258.hp1
NA20129.hp1
NA20300.hp2
intron_variant MODIFIER c.193-4185_193-4176d
others(12): Show 
c.193-4185_193-4176delATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504392 GTATATAT
others(7): Show 
GTATATATATATATA
G
G
17 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(14): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0053g0085
a0001c0002t0055g0091
17 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(14): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03130.hp2
HG03453.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.193-4189_193-4176d
others(16): Show 
c.193-4189_193-4176delATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504392
chr5:156504394 A
A
G
G
1 a0001c0002t0061g0103
a0001c0002t0061g0103
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.193-4207A>G
c.193-4207A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156504394
chr5:156504404 ATATATAT
others(15): Show 
ATATATATATATATATATATATG
A
A
3 a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02615.hp1
NA18906.hp2
HG02055.hp1
HG02615.hp1
NA18906.hp2
intron_variant MODIFIER c.193-4195_193-4174d
others(24): Show 
c.193-4195_193-4174delATATATATATATATATATATGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156504404
chr5:156504432 G
G
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.193-4169G>C
c.193-4169G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156504432
chr5:156504502 A
A
G
G
1 a0001c0001t0032g0020
a0001c0001t0032g0020
1 HG02056.hp1
HG02056.hp1
intron_variant MODIFIER c.193-4099A>G
c.193-4099A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156504502
chr5:156504560 A
A
G
G
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.193-4041A>G
c.193-4041A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156504560
chr5:156504576 G
G
A
A
2 a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0009g0049
a0001c0001t0014g0048
2 HG02723.hp1
HG03139.hp2
HG02723.hp1
HG03139.hp2
intron_variant MODIFIER c.193-4025G>A
c.193-4025G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156504576
chr5:156504855 G
G
T
T
50 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
others(47): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
50 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(47): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03704.hp1
NA18522.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-3746G>T
c.193-3746G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156504855
chr5:156505206 G
G
A
A
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.193-3395G>A
c.193-3395G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156505206
chr5:156505270 T
T
C
C
13 a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
others(10): Show 
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
13 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(10): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG03239.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.193-3331T>C
c.193-3331T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156505270
chr5:156505454 C
C
T
T
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-3147C>T
c.193-3147C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156505454
chr5:156505780 A
A
AAC
AAC
4 a0001c0001t0041g0028
a0001c0001t0047g0003
a0001c0002t0050g0072
others(1): Show 
a0001c0001t0041g0028
a0001c0001t0047g0003
a0001c0002t0050g0072
a0001c0002t0057g0110
4 HG02055.hp1
HG02615.hp1
NA18906.hp2
others(1): Show 
HG02055.hp1
HG02615.hp1
NA18906.hp2
NA20129.hp1
intron_variant MODIFIER c.193-2798_193-2797d
others(4): Show 
c.193-2798_193-2797dupAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156505780
chr5:156505780 AAC
AAC
A
A
52 a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0068
others(49): Show 
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0003c0005t0001g0148
52 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(49): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03704.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-2798_193-2797d
others(4): Show 
c.193-2798_193-2797delAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156505780
chr5:156505780 AACAC
AACAC
A
A
30 a0001c0001t0001g0050
a0001c0001t0001g0133
a0001c0001t0001g0150
others(27): Show 
a0001c0001t0001g0050
a0001c0001t0001g0133
a0001c0001t0001g0150
a0001c0001t0003g0125
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0052g0111
30 HG00639.hp2
HG01081.hp2
HG01109.hp1
others(27): Show 
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02258.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19043.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.193-2800_193-2797d
others(6): Show 
c.193-2800_193-2797delACAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156505780
chr5:156505988 C
C
A
A
100 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
others(97): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0080
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
100 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(97): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-2613C>A
c.193-2613C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156505988
chr5:156506179 G
G
A
A
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.193-2422G>A
c.193-2422G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156506179
chr5:156506368 G
G
GAC
GAC
5 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0041g0028
others(2): Show 
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
5 HG01981.hp1
HG02055.hp1
HG02615.hp1
others(2): Show 
HG01981.hp1
HG02055.hp1
HG02615.hp1
HG02895.hp1
NA18906.hp2
intron_variant MODIFIER c.193-2218_193-2217d
others(4): Show 
c.193-2218_193-2217dupAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156506368
chr5:156506454 G
G
A
A
2 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0001g0050
a0001c0001t0009g0067
2 HG02723.hp2
NA18522.hp2
HG02723.hp2
NA18522.hp2
intron_variant MODIFIER c.193-2147G>A
c.193-2147G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156506454
chr5:156506492 C
C
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.193-2109C>T
c.193-2109C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156506492
chr5:156506510 A
A
G
G
2 a0001c0001t0029g0024
a0001c0001t0049g0149
a0001c0001t0029g0024
a0001c0001t0049g0149
2 HG03098.hp2
HG03130.hp2
HG03098.hp2
HG03130.hp2
intron_variant MODIFIER c.193-2091A>G
c.193-2091A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156506510
chr5:156506578 G
G
A
A
2 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0012g0059
a0001c0001t0012g0060
2 HG02895.hp2
HG02897.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.193-2023G>A
c.193-2023G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156506578
chr5:156506623 C
C
A
A
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.193-1978C>A
c.193-1978C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156506623
chr5:156506677 A
A
G
G
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.193-1924A>G
c.193-1924A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156506677
chr5:156506850 C
C
T
T
52 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
others(49): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
52 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(49): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.193-1751C>T
c.193-1751C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156506850
chr5:156506893 T
T
C
C
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-1708T>C
c.193-1708T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156506893
chr5:156507090 T
T
G
G
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.193-1511T>G
c.193-1511T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156507090
chr5:156507198 T
T
C
C
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-1403T>C
c.193-1403T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156507198
chr5:156507560 A
A
T
T
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.193-1041A>T
c.193-1041A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156507560
chr5:156507636 C
C
T
T
2 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0001g0050
a0001c0001t0009g0067
2 HG02723.hp2
NA18522.hp2
HG02723.hp2
NA18522.hp2
intron_variant MODIFIER c.193-965C>T
c.193-965C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156507636
chr5:156507702 C
C
T
T
3 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0037g0042
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0037g0042
3 HG01981.hp1
HG02895.hp1
NA19043.hp2
HG01981.hp1
HG02895.hp1
NA19043.hp2
intron_variant MODIFIER c.193-899C>T
c.193-899C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156507702
chr5:156507923 G
G
A
A
2 a0001c0001t0031g0021
a0001c0002t0008g0076
a0001c0001t0031g0021
a0001c0002t0008g0076
2 HG01978.hp2
NA19010.hp1
HG01978.hp2
NA19010.hp1
intron_variant MODIFIER c.193-678G>A
c.193-678G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156507923
chr5:156507960 G
G
A
A
94 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
others(91): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0080
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
94 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(91): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.193-641G>A
c.193-641G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156507960
chr5:156508107 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.193-494G>A
c.193-494G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156508107
chr5:156508179 G
G
A
A
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.193-422G>A
c.193-422G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156508179
chr5:156508463 T
T
G
G
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.193-138T>G
c.193-138T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156508463
chr5:156508476 C
C
T
T
11 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(8): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
11 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(8): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.193-125C>T
c.193-125C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156508476
chr5:156508502 TA
TA
T
T
24 a0001c0001t0001g0008
a0001c0001t0001g0133
a0001c0001t0003g0125
others(21): Show 
a0001c0001t0001g0008
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0030g0135
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0004t0001g0009
a0001c0004t0017g0007
24 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(21): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02622.hp1
HG02630.hp2
HG02723.hp2
HG02895.hp1
HG02922.hp1
HG03225.hp2
HG03239.hp2
NA18522.hp1
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19043.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.193-87delA
c.193-87delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156508502
chr5:156508502 TAA
TAA
T
T
13 a0001c0001t0001g0050
a0001c0001t0001g0150
a0001c0001t0006g0037
others(10): Show 
a0001c0001t0001g0050
a0001c0001t0001g0150
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
13 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(10): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
intron_variant MODIFIER c.193-88_193-87delAA
c.193-88_193-87delAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156508502
chr5:156508503 A
A
T
T
1 a0001c0001t0001g0054
a0001c0001t0001g0054
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.193-98A>T
c.193-98A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 chr5 156508503
chr5:156508527 G
G
GT
GT
4 a0001c0001t0001g0025
a0001c0001t0047g0003
a0001c0002t0011g0083
others(1): Show 
a0001c0001t0001g0025
a0001c0001t0047g0003
a0001c0002t0011g0083
a0001c0002t0011g0084
4 HG01243.hp2
HG02258.hp1
HG03139.hp1
others(1): Show 
HG01243.hp2
HG02258.hp1
HG03139.hp1
NA20129.hp1
intron_variant MODIFIER c.193-68dupT
c.193-68dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chr5 156508527
chr5:156508791 A
A
G
G
3 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
3 HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.294+89A>G
c.294+89A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156508791
chr5:156508826 A
A
G
G
15 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(12): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0053g0085
a0001c0002t0055g0091
15 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(12): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+124A>G
c.294+124A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156508826
chr5:156508836 T
T
A
A
2 a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0009g0036
a0001c0001t0012g0010
2 HG01981.hp1
HG02895.hp1
HG01981.hp1
HG02895.hp1
intron_variant MODIFIER c.294+134T>A
c.294+134T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156508836
chr5:156508981 C
C
A
A
34 a0001c0001t0001g0050
a0001c0001t0001g0133
a0001c0001t0001g0150
others(31): Show 
a0001c0001t0001g0050
a0001c0001t0001g0133
a0001c0001t0001g0150
a0001c0001t0003g0125
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0057g0110
34 HG00639.hp2
HG01081.hp2
HG01109.hp1
others(31): Show 
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02258.hp2
HG02615.hp1
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19043.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.294+279C>A
c.294+279C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156508981
chr5:156509076 T
T
G
G
54 a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0068
others(51): Show 
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0038g0044
a0001c0001t0045g0137
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0003c0005t0001g0148
54 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(51): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp2
HG03704.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.294+374T>G
c.294+374T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156509076
chr5:156509152 A
A
G
G
57 a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0068
others(54): Show 
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0045g0137
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0003c0005t0001g0148
57 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(54): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01981.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02895.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp2
HG03704.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.294+450A>G
c.294+450A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156509152
chr5:156509383 C
C
G
G
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.294+681C>G
c.294+681C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156509383
chr5:156509818 C
C
T
T
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.294+1116C>T
c.294+1116C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156509818
chr5:156509930 C
C
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+1228C>T
c.294+1228C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156509930
chr5:156510123 C
C
T
T
1 a0001c0002t0002g0102
a0001c0002t0002g0102
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.294+1421C>T
c.294+1421C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156510123
chr5:156510233 T
T
G
G
1 a0001c0002t0058g0089
a0001c0002t0058g0089
1 HG02145.hp2
HG02145.hp2
intron_variant MODIFIER c.294+1531T>G
c.294+1531T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156510233
chr5:156510248 C
C
T
T
1 a0001c0002t0015g0086
a0001c0002t0015g0086
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.294+1546C>T
c.294+1546C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156510248
chr5:156510272 C
C
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+1570C>T
c.294+1570C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156510272
chr5:156510389 T
T
C
C
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.294+1687T>C
c.294+1687T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156510389
chr5:156510447 A
A
C
C
11 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(8): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0052g0111
11 HG00639.hp2
HG02258.hp2
HG02809.hp1
others(8): Show 
HG00639.hp2
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
intron_variant MODIFIER c.294+1745A>C
c.294+1745A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156510447
chr5:156510640 G
G
A
A
32 a0001c0001t0001g0050
a0001c0001t0001g0133
a0001c0001t0001g0150
others(29): Show 
a0001c0001t0001g0050
a0001c0001t0001g0133
a0001c0001t0001g0150
a0001c0001t0003g0125
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0067
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0057g0110
32 HG00639.hp2
HG01081.hp2
HG01109.hp1
others(29): Show 
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02258.hp2
HG02615.hp1
HG02723.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19043.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.294+1938G>A
c.294+1938G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156510640
chr5:156511007 C
C
T
T
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.294+2305C>T
c.294+2305C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156511007
chr5:156511061 C
C
T
T
101 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
others(98): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0080
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
101 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(98): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.294+2359C>T
c.294+2359C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156511061
chr5:156511222 C
C
A
A
5 a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0033g0141
others(2): Show 
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0033g0141
a0001c0004t0001g0009
a0001c0004t0017g0007
5 HG01243.hp1
HG02622.hp1
HG02630.hp2
others(2): Show 
HG01243.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG03225.hp2
intron_variant MODIFIER c.294+2520C>A
c.294+2520C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156511222
chr5:156511244 C
C
A
A
1 a0001c0002t0002g0077
a0001c0002t0002g0077
1 NA18966.hp2
NA18966.hp2
intron_variant MODIFIER c.294+2542C>A
c.294+2542C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156511244
chr5:156511312 A
A
G
G
52 a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0068
others(49): Show 
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0038g0044
a0001c0001t0045g0137
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0095
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0003c0005t0001g0148
52 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(49): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03704.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.294+2610A>G
c.294+2610A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156511312
chr5:156511353 A
A
G
G
1 a0001c0002t0059g0002
a0001c0002t0059g0002
1 NA18959.hp1
NA18959.hp1
intron_variant MODIFIER c.294+2651A>G
c.294+2651A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156511353
chr5:156511991 C
C
T
T
3 a0001c0001t0003g0119
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0003g0119
a0001c0001t0014g0132
a0001c0001t0016g0120
3 HG01070.hp1
HG01071.hp1
HG02735.hp2
HG01070.hp1
HG01071.hp1
HG02735.hp2
intron_variant MODIFIER c.294+3289C>T
c.294+3289C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156511991
chr5:156512041 A
A
C
C
2 a0001c0001t0013g0057
a0001c0002t0022g0029
a0001c0001t0013g0057
a0001c0002t0022g0029
2 HG03225.hp1
NA20300.hp2
HG03225.hp1
NA20300.hp2
intron_variant MODIFIER c.294+3339A>C
c.294+3339A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512041
chr5:156512063 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+3361G>A
c.294+3361G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512063
chr5:156512191 C
C
CA
CA
20 a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0146
others(17): Show 
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0146
a0001c0001t0007g0124
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0035g0127
a0001c0001t0041g0028
a0001c0002t0002g0075
a0001c0002t0002g0098
a0001c0002t0004g0079
a0001c0002t0004g0104
a0001c0002t0008g0101
a0001c0002t0050g0072
a0001c0002t0057g0110
a0002c0003t0003g0140
a0002c0003t0017g0014
20 HG01109.hp2
HG01169.hp2
HG01978.hp2
others(17): Show 
HG01109.hp2
HG01169.hp2
HG01978.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02145.hp1
HG02559.hp1
HG02615.hp1
HG02723.hp2
HG02895.hp2
HG02897.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp2
NA18964.hp1
NA18966.hp1
NA19009.hp2
NA20300.hp1
intron_variant MODIFIER c.294+3511dupA
c.294+3511dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156512191
chr5:156512191 C
C
CAA
CAA
24 a0001c0001t0001g0133
a0001c0001t0001g0150
a0001c0001t0003g0125
others(21): Show 
a0001c0001t0001g0133
a0001c0001t0001g0150
a0001c0001t0003g0125
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0109
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0052g0111
24 HG01081.hp2
HG01109.hp1
HG01256.hp2
others(21): Show 
HG01081.hp2
HG01109.hp1
HG01256.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02258.hp2
HG02630.hp1
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
NA18906.hp1
NA18953.hp1
NA18966.hp2
NA19003.hp1
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.294+3510_294+3511d
others(4): Show 
c.294+3510_294+3511dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156512191
chr5:156512191 CA
CA
C
C
5 a0001c0001t0018g0039
a0001c0001t0029g0024
a0001c0001t0037g0042
others(2): Show 
a0001c0001t0018g0039
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0002t0008g0115
a0001c0002t0011g0090
5 HG01516.hp1
HG03098.hp2
NA19030.hp2
others(2): Show 
HG01516.hp1
HG03098.hp2
NA19030.hp2
NA19043.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.294+3511delA
c.294+3511delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156512191
chr5:156512246 A
A
G
G
3 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0043g0139
3 HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.294+3544A>G
c.294+3544A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512246
chr5:156512253 T
T
C
C
2 a0001c0001t0013g0057
a0001c0002t0022g0029
a0001c0001t0013g0057
a0001c0002t0022g0029
2 HG03225.hp1
NA20300.hp2
HG03225.hp1
NA20300.hp2
intron_variant MODIFIER c.294+3551T>C
c.294+3551T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512253
chr5:156512502 C
C
T
T
14 a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
others(11): Show 
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0051g0099
14 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(11): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp2
HG03239.hp2
NA18953.hp1
NA18964.hp1
NA19003.hp1
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.294+3800C>T
c.294+3800C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512502
chr5:156512503 A
A
C
C
2 a0001c0001t0013g0057
a0001c0002t0022g0029
a0001c0001t0013g0057
a0001c0002t0022g0029
2 HG03225.hp1
NA20300.hp2
HG03225.hp1
NA20300.hp2
intron_variant MODIFIER c.294+3801A>C
c.294+3801A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512503
chr5:156512543 A
A
G
G
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.294+3841A>G
c.294+3841A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512543
chr5:156512646 A
A
G
G
1 a0001c0001t0001g0052
a0001c0001t0001g0052
1 HG02257.hp2
HG02257.hp2
intron_variant MODIFIER c.294+3944A>G
c.294+3944A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512646
chr5:156512663 A
A
G
G
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.294+3961A>G
c.294+3961A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512663
chr5:156512670 A
A
G
G
4 a0001c0001t0009g0067
a0001c0001t0041g0028
a0001c0002t0050g0072
others(1): Show 
a0001c0001t0009g0067
a0001c0001t0041g0028
a0001c0002t0050g0072
a0001c0002t0057g0110
4 HG02055.hp1
HG02615.hp1
HG02723.hp2
others(1): Show 
HG02055.hp1
HG02615.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.294+3968A>G
c.294+3968A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512670
chr5:156512783 A
A
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+4081A>C
c.294+4081A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512783
chr5:156512842 T
T
C
C
5 a0001c0001t0001g0050
a0001c0001t0012g0059
a0001c0001t0012g0060
others(2): Show 
a0001c0001t0001g0050
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0018g0039
a0001c0001t0043g0139
5 HG02630.hp1
HG02895.hp2
HG02897.hp1
others(2): Show 
HG02630.hp1
HG02895.hp2
HG02897.hp1
NA18522.hp2
NA19030.hp2
intron_variant MODIFIER c.294+4140T>C
c.294+4140T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512842
chr5:156512847 G
G
A
A
54 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
others(51): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0084
a0001c0002t0015g0078
a0001c0002t0022g0029
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
54 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(51): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01243.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.294+4145G>A
c.294+4145G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156512847
chr5:156513116 T
T
C
C
55 a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
others(52): Show 
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
55 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(52): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01981.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.294+4414T>C
c.294+4414T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156513116
chr5:156513195 T
T
C
C
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.294+4493T>C
c.294+4493T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156513195
chr5:156513333 A
A
C
C
1 a0001c0002t0054g0073
a0001c0002t0054g0073
1 NA18990.hp1
NA18990.hp1
intron_variant MODIFIER c.294+4631A>C
c.294+4631A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156513333
chr5:156513575 C
C
T
T
3 a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0042g0065
3 HG02922.hp2
HG02970.hp1
HG03041.hp2
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.294+4873C>T
c.294+4873C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156513575
chr5:156514068 T
T
G
G
37 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0058
others(34): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0042g0065
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
37 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(34): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18906.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19043.hp1
NA20129.hp2
intron_variant MODIFIER c.294+5366T>G
c.294+5366T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156514068
chr5:156514228 G
G
A
A
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.294+5526G>A
c.294+5526G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156514228
chr5:156514326 C
C
A
A
11 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0133
others(8): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0051g0099
11 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(8): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02129.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.294+5624C>A
c.294+5624C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156514326
chr5:156514386 T
T
G
G
49 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0058
others(46): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
49 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(46): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18906.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.294+5684T>G
c.294+5684T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156514386
chr5:156514599 A
A
G
G
14 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(11): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0142
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0052g0111
a0001c0006t0018g0145
14 HG02145.hp1
HG02257.hp1
HG02258.hp2
others(11): Show 
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.294+5897A>G
c.294+5897A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156514599
chr5:156514752 A
A
G
G
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+6050A>G
c.294+6050A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156514752
chr5:156514800 T
T
C
C
2 a0001c0001t0038g0044
a0001c0002t0004g0104
a0001c0001t0038g0044
a0001c0002t0004g0104
2 HG02056.hp2
HG02083.hp1
HG02056.hp2
HG02083.hp1
intron_variant MODIFIER c.294+6098T>C
c.294+6098T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156514800
chr5:156514854 C
C
T
T
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.294+6152C>T
c.294+6152C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156514854
chr5:156515116 G
G
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+6414G>C
c.294+6414G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156515116
chr5:156515190 G
G
T
T
1 a0001c0002t0004g0079
a0001c0002t0004g0079
1 NA20300.hp1
NA20300.hp1
intron_variant MODIFIER c.294+6488G>T
c.294+6488G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156515190
chr5:156515202 A
A
G
G
9 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(6): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
9 HG01243.hp1
HG02615.hp1
HG02895.hp2
others(6): Show 
HG01243.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.294+6500A>G
c.294+6500A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156515202
chr5:156515222 G
G
GA
GA
35 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0058
others(32): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0042g0065
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
35 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(32): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19043.hp1
NA20129.hp2
intron_variant MODIFIER c.294+6528dupA
c.294+6528dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156515222
chr5:156515426 G
G
A
A
1 a0001c0002t0058g0089
a0001c0002t0058g0089
1 HG02145.hp2
HG02145.hp2
intron_variant MODIFIER c.294+6724G>A
c.294+6724G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156515426
chr5:156515566 G
G
A
A
4 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(1): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0108
4 HG02257.hp2
HG02698.hp2
NA18990.hp2
others(1): Show 
HG02257.hp2
HG02698.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.294+6864G>A
c.294+6864G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156515566
chr5:156515721 G
G
C
C
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+7019G>C
c.294+7019G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156515721
chr5:156515722 C
C
T
T
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+7020C>T
c.294+7020C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156515722
chr5:156515735 C
C
T
T
85 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(82): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0006t0018g0145
85 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(82): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+7033C>T
c.294+7033C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156515735
chr5:156515769 G
G
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+7067G>A
c.294+7067G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156515769
chr5:156515864 G
G
A
A
1 a0001c0002t0050g0072
a0001c0002t0050g0072
1 HG02055.hp1
HG02055.hp1
intron_variant MODIFIER c.294+7162G>A
c.294+7162G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156515864
chr5:156516221 A
A
ACC
ACC
14 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(11): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
14 HG01081.hp2
HG01109.hp1
HG01256.hp2
others(11): Show 
HG01081.hp2
HG01109.hp1
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+7524_294+7525d
others(4): Show 
c.294+7524_294+7525dupCC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156516221
chr5:156516228 A
A
C
C
23 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0001g0147
others(20): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
23 HG00558.hp2
HG01243.hp2
HG01891.hp1
others(20): Show 
HG00558.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02615.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp1
intron_variant MODIFIER c.294+7526A>C
c.294+7526A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516228
chr5:156516230 A
A
C
C
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.294+7528A>C
c.294+7528A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516230
chr5:156516295 C
C
CT
CT
33 a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
others(30): Show 
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0042g0065
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
33 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(30): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.294+7594dupT
c.294+7594dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156516295
chr5:156516357 A
A
T
T
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+7655A>T
c.294+7655A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516357
chr5:156516403 C
C
A
A
85 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(82): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0006t0018g0145
85 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(82): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+7701C>A
c.294+7701C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516403
chr5:156516495 C
C
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+7793C>A
c.294+7793C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516495
chr5:156516497 A
A
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+7795A>T
c.294+7795A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516497
chr5:156516677 G
G
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+7975G>A
c.294+7975G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516677
chr5:156516706 G
G
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+8004G>A
c.294+8004G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516706
chr5:156516762 C
C
T
T
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.294+8060C>T
c.294+8060C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516762
chr5:156516807 G
G
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+8105G>A
c.294+8105G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516807
chr5:156516879 C
C
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+8177C>T
c.294+8177C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516879
chr5:156516913 G
G
T
T
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.294+8211G>T
c.294+8211G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516913
chr5:156516921 C
C
T
T
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+8219C>T
c.294+8219C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516921
chr5:156516929 T
T
G
G
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.294+8227T>G
c.294+8227T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156516929
chr5:156517245 C
C
T
T
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.294+8543C>T
c.294+8543C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156517245
chr5:156517320 T
T
C
C
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.294+8618T>C
c.294+8618T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156517320
chr5:156517646 C
C
G
G
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+8944C>G
c.294+8944C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156517646
chr5:156517647 C
C
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+8945C>T
c.294+8945C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156517647
chr5:156517726 A
A
G
G
16 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
others(13): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
16 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(13): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03471.hp2
HG03704.hp1
intron_variant MODIFIER c.294+9024A>G
c.294+9024A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156517726
chr5:156517745 T
T
G
G
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.294+9043T>G
c.294+9043T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156517745
chr5:156517748 C
C
T
T
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.294+9046C>T
c.294+9046C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156517748
chr5:156517810 T
T
C
C
86 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(83): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0006t0018g0145
86 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(83): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+9108T>C
c.294+9108T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156517810
chr5:156518042 A
A
G
G
2 a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0012g0010
a0001c0001t0020g0017
2 HG01981.hp1
HG02622.hp1
HG01981.hp1
HG02622.hp1
intron_variant MODIFIER c.294+9340A>G
c.294+9340A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156518042
chr5:156518161 G
G
A
A
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+9459G>A
c.294+9459G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156518161
chr5:156518245 C
C
T
T
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.294+9543C>T
c.294+9543C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156518245
chr5:156518305 G
G
A
A
22 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
others(19): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0028g0034
a0001c0002t0056g0096
22 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(19): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.294+9603G>A
c.294+9603G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156518305
chr5:156518354 C
C
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+9652C>A
c.294+9652C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156518354
chr5:156518374 C
C
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.294+9672C>A
c.294+9672C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156518374
chr5:156518421 C
C
T
T
9 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.294+9719C>T
c.294+9719C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156518421
chr5:156518424 A
A
C
C
1 a0001c0002t0002g0102
a0001c0002t0002g0102
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.294+9722A>C
c.294+9722A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156518424
chr5:156518967 C
C
A
A
1 a0001c0002t0028g0034
a0001c0002t0028g0034
1 HG02717.hp1
HG02717.hp1
intron_variant MODIFIER c.294+10265C>A
c.294+10265C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156518967
chr5:156519110 A
A
G
G
1 a0001c0001t0007g0124
a0001c0001t0007g0124
1 NA18966.hp1
NA18966.hp1
intron_variant MODIFIER c.294+10408A>G
c.294+10408A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156519110
chr5:156519122 T
T
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+10420T>C
c.294+10420T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156519122
chr5:156519283 G
G
A
A
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+10581G>A
c.294+10581G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156519283
chr5:156519353 AAAAC
AAAAC
A
A
4 a0001c0001t0001g0117
a0001c0001t0012g0010
a0001c0001t0020g0017
others(1): Show 
a0001c0001t0001g0117
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0002t0022g0029
4 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
NA20300.hp2
intron_variant MODIFIER c.294+10671_294+1067
others(8): Show 
c.294+10671_294+10674delCAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156519353
chr5:156519462 C
C
A
A
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.294+10760C>A
c.294+10760C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156519462
chr5:156519473 A
A
T
T
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.294+10771A>T
c.294+10771A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156519473
chr5:156519551 GA
GA
G
G
19 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
others(16): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0028g0034
a0001c0002t0056g0096
19 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(16): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA20129.hp2
intron_variant MODIFIER c.294+10850delA
c.294+10850delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156519551
chr5:156519643 A
A
T
T
2 a0001c0001t0001g0054
a0001c0001t0033g0141
a0001c0001t0001g0054
a0001c0001t0033g0141
2 HG02622.hp2
HG03225.hp2
HG02622.hp2
HG03225.hp2
intron_variant MODIFIER c.294+10941A>T
c.294+10941A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156519643
chr5:156519943 T
T
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+11241T>C
c.294+11241T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156519943
chr5:156519993 A
A
G
G
74 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(71): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
74 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(71): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+11291A>G
c.294+11291A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156519993
chr5:156520025 C
C
G
G
87 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(84): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
87 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(84): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+11323C>G
c.294+11323C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156520025
chr5:156520046 T
T
C
C
1 a0001c0001t0007g0134
a0001c0001t0007g0134
1 NA18985.hp2
NA18985.hp2
intron_variant MODIFIER c.294+11344T>C
c.294+11344T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156520046
chr5:156520052 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+11350A>G
c.294+11350A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156520052
chr5:156520078 C
C
T
T
1 a0001c0001t0014g0048
a0001c0001t0014g0048
1 HG02723.hp1
HG02723.hp1
intron_variant MODIFIER c.294+11376C>T
c.294+11376C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156520078
chr5:156520103 A
A
G
G
2 a0002c0003t0003g0140
a0002c0003t0017g0014
a0002c0003t0003g0140
a0002c0003t0017g0014
2 HG02559.hp1
HG04115.hp2
HG02559.hp1
HG04115.hp2
intron_variant MODIFIER c.294+11401A>G
c.294+11401A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156520103
chr5:156520273 CA
CA
C
C
20 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
others(17): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0028g0034
a0001c0002t0056g0096
20 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(17): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA19043.hp2
NA20129.hp2
intron_variant MODIFIER c.294+11574delA
c.294+11574delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156520273
chr5:156520306 C
C
A
A
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.294+11604C>A
c.294+11604C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156520306
chr5:156520321 A
A
T
T
1 a0001c0002t0004g0114
a0001c0002t0004g0114
1 HG01261.hp1
HG01261.hp1
intron_variant MODIFIER c.294+11619A>T
c.294+11619A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156520321
chr5:156520466 A
A
G
G
7 a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
others(4): Show 
a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0057g0110
7 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(4): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
HG03471.hp2
NA18906.hp2
NA20129.hp1
intron_variant MODIFIER c.294+11764A>G
c.294+11764A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156520466
chr5:156520488 T
T
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+11786T>A
c.294+11786T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156520488
chr5:156520615 C
C
T
T
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
a0003c0005t0001g0148
19 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(16): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02735.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+11913C>T
c.294+11913C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156520615
chr5:156520744 G
G
A
A
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.294+12042G>A
c.294+12042G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156520744
chr5:156520753 C
C
T
T
7 a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
others(4): Show 
a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0057g0110
7 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(4): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
HG03471.hp2
NA18906.hp2
NA20129.hp1
intron_variant MODIFIER c.294+12051C>T
c.294+12051C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156520753
chr5:156521016 C
C
CA
CA
9 a0001c0001t0001g0117
a0001c0001t0012g0010
a0001c0001t0020g0017
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0031g0021
a0001c0002t0002g0093
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0058g0089
a0003c0005t0001g0148
9 HG01978.hp2
HG01981.hp1
HG01981.hp2
others(6): Show 
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02145.hp2
HG02622.hp1
HG02717.hp2
HG02735.hp1
NA18953.hp2
NA20300.hp2
intron_variant MODIFIER c.294+12339dupA
c.294+12339dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156521016
chr5:156521016 CA
CA
C
C
56 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
others(53): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0030g0135
a0001c0001t0038g0044
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0004c0007t0020g0012
56 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(53): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01243.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03704.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.294+12339delA
c.294+12339delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156521016
chr5:156521016 CAA
CAA
C
C
7 a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0067
others(4): Show 
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0037g0042
a0001c0001t0045g0137
a0001c0002t0057g0110
7 HG01891.hp1
HG02723.hp2
HG02895.hp1
others(4): Show 
HG01891.hp1
HG02723.hp2
HG02895.hp1
HG02965.hp2
HG03579.hp2
NA18906.hp2
NA19043.hp2
intron_variant MODIFIER c.294+12338_294+1233
others(6): Show 
c.294+12338_294+12339delAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156521016
chr5:156521016 CAAA
CAAA
C
C
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+12337_294+1233
others(7): Show 
c.294+12337_294+12339delAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156521016
chr5:156521252 A
A
G
G
3 a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0107
3 HG00558.hp1
HG02129.hp1
NA18985.hp1
HG00558.hp1
HG02129.hp1
NA18985.hp1
intron_variant MODIFIER c.294+12550A>G
c.294+12550A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156521252
chr5:156521262 C
C
G
G
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.294+12560C>G
c.294+12560C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156521262
chr5:156521329 CAACAAGA
others(5910): Show 
CAACAAGAGCAAAAAATTGACCAATGGGACCTAATTAAACTAAAGAGCTT
CTGCACAGCCAAAGAAACTATCATCAGAGCAAACAGACAACCTACAGAAT
GGGAGAAAATTTTTGCAATCTATCCATCTGAGAAAGGTCTAATATTCAGA
GTCTACAAGAAACTTAAACAAATTTACAAGAAATAAAACACATTATAAAG
TGGGCAAAGGACACGAACAGACAGTTCTCAAAAGAAGGATGCATGTCGCC
AACAAATGTATAAAAAAAGCTCAGTATCACTGATCATTAGAGAAATCCAA
ATCAAATCCACAATGAGATACCACCTCACGGCAGTCAAAATGGCTATTAC
TGAAAGTCAAGAAACAACAGATGCTAGTGAGGCTGTGGGGAAATAGGAAT
GCTTTTACACTGTTGGTGGGAATATAAATTAGTTTAACCATTGTGAAAGA
CAGTGTGGTGATTCCTCAAAGACCTGGAACTAAAAATACCATTTGTCCCA
GCAATCCCATTACTGGGTATATACCCAAAGGAATATAGATCATTCCATTA
TAAAGATACATACATGTGTATGTTCACTGCAGCACTATTTACAATAGCAA
AGACATGGAATCAACCCAAATGCCCATCAGTGGTAGACTGGATAAAGAAA
ATGTGGCACATATACGCTATGGAATACTATGCAGCCATAAAAAAGGATGA
GTTCATGTCCTTCGAAGGGACATAGATGAAGCTGGAAACCATCATTCTCA
GCAAACTATCACAAGGACAGAAAACCAAACACCGCATGTTCTCACTTGTG
TGGGAATTGAACAATGAGAACACCTGGACACAGGGCAGGGAACATCACAC
ACCAGGGCCTGTCAGGGGGTGGGGGGCTGAGGGAGGGATAGCATCAGGAG
AAATACCTAAAGTCAGTGATGAGTTGATGGGTGCAGCAAATCAACATGGC
ACATGTATACCTATGTATCAAACCTGCACGTTGTGCACATGTACCCTAGA
ACTTAAAGTATAATAATAAAAAAGATACTAAAAAAGAAAATGTGGTACAT
ATACACCATGAAGTACTATGCAGCCTTAAAAAGGAATGAAATCATGCCCT
TTTCAGGACATAGATGGAGCTGGAAGCCATTATCCTCAGCAAACTAACAC
AGCAAAGAAAACCAAACGTCGCATGTTCTTACTTACAAGTGGGAGCTGAA
CAATGAGAACATATGGACACGGGGAGAGGAACAACACACACCGGGGCCTA
TTGATGGGGAGTCAGAGGGAAGGAGAGCATCAGGAAAAACAGTTAATGCA
TGCTGGGCTTTAAACCTAGGTGATGGGTTGTTAGGTGCAGCCAACCACCA
TGGCACACATTTACCTACTTAACAAACCTGTACATTCTGTACATGTACCC
CAGCACTTAAAAAAAAAAAAGACAACCCCATCCCCACCCCCCGACACACA
CATCAGTGCTGTACAAAATCCTGTGTAAATGTTGGTTCTTATTAAAGTCT
AAATTCCACATATAAAATGGGGCATGAGGGTATCCAAGTTTGTCAATATT
TATCAAAGTTGAGAAATATCTGTACACTTTTTGAAACCCTAAGCCAGTCA
TCCTCAGCATGAATTGTTATTTTTGATTCTGTCATTTCTTTATTTAATGA
AGAGGGAGATTTGTAAAAATCCATTTTGATTTTAGCATGATGTCAATTGA
GATTTATTCCATCATCCTAATTACCAAGACATATCTAGGAGGAATGTTAA
AAGCACCTAATAATTTAATTAGACCAATTACTTCATTTACTGATTGGGGC
ACTAAGGCTCAGAAAGAAAGCAGGATTTACCAAATTATACCCAGCTAAAT
TTAGAACTAAAATCCAGAATGGCAGTATTCTTCCCTGTGACCAAACTGAC
TGTTAAGTGGTAATTTTTTAATGATATGTTTAGTGTGACAAGTGGTTACA
CGTGGCAATTTCCCTCTCATGAGGAATAACTTTGACTGAAATGCATGTTG
AACTCATGAGAAGATTCATAAGCACTATGAGAAGGAAACTGGAAACAACA
GTGGATAATGCAACGGAACTGAAGCTTAATTATGGATGATCTAATCACTG
GGATGATATTGTATACTTAATGTATTTCTCGTAAGAGTTAAGCGAAATGA
TTTTAGTGACCTGCCTTAGAAAGTATTAAGTCAGCTTATGACAGAAGTTA
CAAACTGAATCCAGGTCACAGATGTAGTCTATTTGCCTCACACAGTATTT
TTCTTTTAATATGTGTGCTTCTAATATTTAACAATCTGAGAATCTCACAT
TTTTTTAAAAATCTACATTTTCTGATTCTTATGAAGGAACAAAAATATGG
TAGAGTGTTTCGATATTCTTACACGGTAGAGTTCAGGGGCAGTCTCACAT
TTTGAAAACTTCATACTTTATATGAGACATTTTTTCTTCAGTTTGGCATA
GTCTCACCAGTCACTATTGTGTCATACCCAGTTACTTAACTCATTTATAC
TGAGGACCTCTGAAGTACCTTGCAGGTGCAGTACCTGGTTTATGGTGTTA
TGAATGTACAATACGTTTTTACTTAATGTCCTCAGTAGGTTCTTAGAAAC
TGCAACTTTAAGTAGAACACCATATATTAGGTCCTTGAGAAACATTGTTT
TGTCCAGAGTCATTTTGTTATAACATTGGTGAAAAAAAAAATGCTTTTGT
TACATGTTATTTCACTTAAAGTGGCAGTTTCCAAGAACCTATGGATGATG
ATAAGTGAGGTCTTACTATATATATATATATATATATATATATATATATA
TATATATATATATATATATGGTTTTACATAAAACTACAGTTTTATATAGG
TCTTACTATATATATATATATATATATATAGGTCTTTATATATATAAAGA
GAGAGTAATATATATAGTTATATATAAAACTATAGTTTATATATAGTAAT
ATATATAGTTATATATATATATATATATCATCATGCAGGAGTTAAGAAAC
TAGGATGATTTCATAGGATTAATATTCACTCCTCTTTACCATTCCTTACT
TCTTGTTTCTCTCTCTTGTGACCCAGTTTCTCCTAGTGGTCTAGCTTGGG
GGTTCCCCTACCACTTTATTGAGGTATAATTGACAGGTAAAAATTGTATA
TATATTTAAGGTGTACAAACTTAATGATGTTTTAATATACATCATGAAAT
GACTAACATAATAAAACCAATAACGTATTCACCACCTCACATAATTGCCT
TATTTTATGCATGTGGTGAGAATACCTAAGGTCTACTTTCTTAACAAATT
TCAGGTATATAATACATGCTTATTACCTATAGTCACCATGTTGTATATTA
GGTCTCCAGAACTTATTCACGTTATAAATGAAAGTGTGTACTCTTTGATG
AACATCTTGTTTCACCTACCCCACTCCCACCCTCACTAACAACCCTTCTA
CTCAATGTTTCTGAGTTTGACTTTTTAAAATTCTACATAAAAGTGAGACT
ATGCAGTATTTGCCTTTCTGTGACTTGGTGATTTAGCTTAATGTTCTCCA
GGTTCATCCACGTTGTTAAAAATGACAAGATTTCTTCTTTTAAGGCTAAA
TAGTATTCCATTGTGTATATATACCATATTTTCTTTGCTCATTCATCTGT
CAGTTTAGATTTAATTCATATCTTGGCTATTGTGAATAATGCTACAGTGA
ATATGGGCATGCAGATATCTCTTTAAGATAATGATTTTCTTTCTGTTGGA
TATGTACCCAGAAGTGGGATGGCTGTATCCTATGGTAGTTCTATTTTACT
TTTTTTGAGGACGCTCCATGCAGTTTTCCATAATGGCTGTACCAATTTAC
ATTTCAACCAACAATACAAAAAGGTCCTCTTTTCTCTACATCCTTGCCAA
CATTTGTTATCTTTCTTCTTTTTGATAACAGCCATTCTAAAAAGGGTGAG
GTCATAACTAATTGTGGTTTTGATTTGCATTTCCCTGATGATTAGTGGTG
CTGAACACCTTTTCATATACCTGTTGGTCAGTTGTATGTCTTCTTTGGAA
AAAGGTTTATTCAGGTTCTTTGCCAAGTTTTAAATTTGGGTTATTTAGTT
TTATGCTCTTGAGTTGCATGAGTTCTTTATATAGTTTTATTATTAATCCA
TTATCAGGAAGGTAGTTTTCAAATATGTTCTCACATTCCATAGATTTCCT
TTTCATTTTGTTGATTTTTTTTTTTATTGTATGGAAAAGTTTTAGTTTCA
TGTAGTCCTACTTGTTTGCTTAATTTTGCTTTTGATTCCTATGCTTTTGG
CTCATATAAGAAAAAAGTCATTTCAAAGACCAATGTCATAGAGCTTTGCC
CCTATGTTTTCCTCTAGTAGTTTTACTGTTTCTGGTCTTATGCTTAAGCC
TTTAACCCATTTTTGAGTTGATTTTTGTGTACAGTATAAAATAAGGATTC
AATTTCATTTTTGTGCATGTGGCTATCCTGTTTTCTCAGCACCATTTATT
GAAGAGACTATTTTTTTACCCATCACATATTTTGGTAATTTTGTTGAAAA
TTACTTAACCATATCTGTGGGTTTATTGCTCAGCTTTCTATTCTGTTCCA
TTTATCTATGTGTCTGTTTTTTGTTTGTTTTTGTTAGTACCATACTGCTT
TGATTTCAATAACTTTTTAATATAATTTGTAATCAGGACATATGATACCT
CCAGTTTTGTTCTTCTTGGTTTTGAAATTGTATGCAAGTTCAATGGCAGG
CAGTAGTTGTCTTAGAATTTCTGGAGTCTGAAGTATGGCCCTTTACAGCC
ATTCTCTACTCTGAGTCTTCTAAAATGTGCTTCCTTTTTGTTCGTCTAAG
CACTAAAGAACTTAAGCTGGGGAAGGAGGGAGATAAAGATGAGAAAGTGT
TAAGATTTGGATTCTGAGTGCTGTTTATGAGGGAAAAAAAAAGTGAGAAC
TATCATGGGATGGCAGACACGCACACAGTCTGAATAGGTTCCATTGATAA
ATTAGTTGCAAGGAGCAAAGTCATGTCTCTGGTTAGTTTAGAAACAAAAT
GAAGGCTATGATGGCTTCTCCTCAGTAAGCAAAGCAGCTCCAACTCCCAA
GTGAACACACTGCACACAAAACAGTATTTTCCATGCCACTTGCATGGAAC
ACGAGCATCTTGCTGTCTTAAATTAAGAAGTTAACTGGACCATGAAGTAT
TGCCTGAGTAAATAAAAGTGATTTGTACTAAGTCAGAAGGGTGCATTAGG
CCTCTTTGCGTTTCTTTGCTCACACATAAATTATGGATATTATTAAAAAT
TGGAAGGGTCATCTATAAGCCCATCTGTACTATGAAGCCAATTGCCATTC
CCCAAATGTATCTGTTTTCCTCTTATAACTTATTGTGGACGATAATGTGA
ACCAGCTGCTTACATTTTTTTTAAACAGACACATAAACTTTGAATAGTTC
AACACGTAATACTATTGTCAGTTTATTCGGGAAAACAGAGATACGTATTC
AAAGGCTTTTGGCTGCCATACAATTAACATGGCTGATGGGGATAAATTGA
CTGTGCGTGCTTTTCTTAAATGAAGCTTATACTAGAAATGTAAGAGTTAC
TGAGGGCTTTGGTCGATCTCAGTTATAACAATGTCAGCCAGAGTTCTGGT
AGGAGAAGTGTGTTCAAACTTCAAAGGAGCCTGAGAATGTCTAATTGTAT
GAGTTGAGGGCCACTGGGCAGGTAAGATTCCTCAAATTCTTCCTCATTGC
CTATCATGGTACAGAAGGGTCCATCATTAGAATCTCTTTTATTTGAAGGC
TTCTGGATCTCTCAGTAATTTTTATTCAGCCAGACTCATACTATAAACAC
TCCTTTCACTGATGTACAAACACATTTCCACAAAGGTTTGGAAATAACTT
ATAAGAAGTACATACAGT
C
C
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.294+12632_294+1854
others(4): Show 
c.294+12632_294+18548del
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156521329
chr5:156521360 T
T
C
C
1 a0001c0001t0016g0144
a0001c0001t0016g0144
1 HG01243.hp1
HG01243.hp1
intron_variant MODIFIER c.294+12658T>C
c.294+12658T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156521360
chr5:156521518 A
A
G
G
3 a0001c0001t0001g0117
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0001g0117
a0001c0001t0012g0010
a0001c0001t0020g0017
3 HG01981.hp1
HG02622.hp1
HG02717.hp2
HG01981.hp1
HG02622.hp1
HG02717.hp2
intron_variant MODIFIER c.294+12816A>G
c.294+12816A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156521518
chr5:156521641 A
A
G
G
9 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.294+12939A>G
c.294+12939A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156521641
chr5:156521646 A
A
G
G
16 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(13): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
16 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(13): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02895.hp1
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+12944A>G
c.294+12944A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156521646
chr5:156521658 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+12956G>A
c.294+12956G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156521658
chr5:156521751 T
T
C
C
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.294+13049T>C
c.294+13049T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156521751
chr5:156521883 G
G
A
A
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+13181G>A
c.294+13181G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156521883
chr5:156521960 G
G
T
T
20 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
others(17): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
20 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(17): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03471.hp2
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA20129.hp2
intron_variant MODIFIER c.294+13258G>T
c.294+13258G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156521960
chr5:156521993 C
C
T
T
6 a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
others(3): Show 
a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(3): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA20129.hp1
intron_variant MODIFIER c.294+13291C>T
c.294+13291C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156521993
chr5:156522047 G
G
A
A
31 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
others(28): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
31 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(28): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.294+13345G>A
c.294+13345G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156522047
chr5:156522171 C
C
T
T
1 a0001c0002t0008g0115
a0001c0002t0008g0115
1 HG01516.hp1
HG01516.hp1
intron_variant MODIFIER c.294+13469C>T
c.294+13469C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156522171
chr5:156522194 G
G
C
C
6 a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
others(3): Show 
a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(3): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA20129.hp1
intron_variant MODIFIER c.294+13492G>C
c.294+13492G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156522194
chr5:156522377 A
A
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+13675A>C
c.294+13675A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156522377
chr5:156522379 A
A
G
G
32 a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
others(29): Show 
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0042g0065
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
32 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(29): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.294+13677A>G
c.294+13677A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156522379
chr5:156522402 C
C
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+13700C>A
c.294+13700C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156522402
chr5:156522438 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+13736A>G
c.294+13736A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156522438
chr5:156522539 A
A
G
G
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.294+13837A>G
c.294+13837A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156522539
chr5:156522736 TA
TA
T
T
73 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(70): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
73 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(70): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+14046delA
c.294+14046delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156522736
chr5:156522771 G
G
C
C
70 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
others(67): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0006t0018g0145
70 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(67): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+14069G>C
c.294+14069G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156522771
chr5:156522772 A
A
C
C
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.294+14070A>C
c.294+14070A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156522772
chr5:156522889 G
G
C
C
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.294+14187G>C
c.294+14187G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156522889
chr5:156522929 T
T
C
C
21 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
others(18): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
21 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(18): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03471.hp2
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA20129.hp2
intron_variant MODIFIER c.294+14227T>C
c.294+14227T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156522929
chr5:156523038 C
C
T
T
1 a0001c0001t0001g0045
a0001c0001t0001g0045
1 NA19002.hp2
NA19002.hp2
intron_variant MODIFIER c.294+14336C>T
c.294+14336C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156523038
chr5:156523120 G
G
C
C
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+14418G>C
c.294+14418G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156523120
chr5:156523121 A
A
G
G
28 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
others(25): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0067
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0056g0096
a0001c0002t0057g0110
28 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(25): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02965.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp1
HG03471.hp2
HG03704.hp1
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19043.hp2
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.294+14419A>G
c.294+14419A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156523121
chr5:156523172 G
G
A
A
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.294+14470G>A
c.294+14470G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156523172
chr5:156523285 A
A
G
G
12 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
others(9): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0056g0096
12 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(9): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.294+14583A>G
c.294+14583A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156523285
chr5:156523388 G
G
A
A
20 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
others(17): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
20 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(17): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03471.hp2
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA20129.hp2
intron_variant MODIFIER c.294+14686G>A
c.294+14686G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156523388
chr5:156523686 T
T
G
G
6 a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
others(3): Show 
a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(3): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA20129.hp1
intron_variant MODIFIER c.294+14984T>G
c.294+14984T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156523686
chr5:156523769 G
G
A
A
1 a0001c0001t0013g0057
a0001c0001t0013g0057
1 HG03225.hp1
HG03225.hp1
intron_variant MODIFIER c.294+15067G>A
c.294+15067G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156523769
chr5:156523913 G
G
A
A
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+15211G>A
c.294+15211G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156523913
chr5:156524009 G
G
GA
GA
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+15317dupA
c.294+15317dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524009
chr5:156524079 A
A
G
G
1 a0001c0002t0010g0094
a0001c0002t0010g0094
1 NA19010.hp2
NA19010.hp2
intron_variant MODIFIER c.294+15377A>G
c.294+15377A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156524079
chr5:156524094 C
C
CTA
CTA
7 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0070
others(4): Show 
a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0070
a0001c0002t0002g0098
a0001c0002t0008g0076
a0001c0002t0010g0094
a0004c0007t0020g0012
7 HG01070.hp2
HG01169.hp1
HG01516.hp2
others(4): Show 
HG01070.hp2
HG01169.hp1
HG01516.hp2
NA18964.hp1
NA18985.hp1
NA19010.hp1
NA19010.hp2
intron_variant MODIFIER c.294+15444_294+1544
others(6): Show 
c.294+15444_294+15445dupAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTA
CTA
C
C
6 a0001c0001t0001g0054
a0001c0001t0036g0043
a0001c0002t0002g0069
others(3): Show 
a0001c0001t0001g0054
a0001c0001t0036g0043
a0001c0002t0002g0069
a0001c0002t0002g0077
a0001c0002t0002g0093
a0001c0002t0011g0083
6 HG02258.hp1
HG02622.hp2
NA18906.hp1
others(3): Show 
HG02258.hp1
HG02622.hp2
NA18906.hp1
NA18953.hp2
NA18966.hp2
NA19240.hp2
intron_variant MODIFIER c.294+15444_294+1544
others(6): Show 
c.294+15444_294+15445delAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATA
CTATA
C
C
10 a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
others(7): Show 
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0009g0049
a0001c0001t0027g0011
a0001c0001t0042g0065
a0001c0002t0002g0080
a0001c0002t0002g0102
a0001c0002t0008g0006
a0001c0002t0061g0103
10 HG02040.hp1
HG02040.hp2
HG02258.hp2
others(7): Show 
HG02040.hp1
HG02040.hp2
HG02258.hp2
HG02698.hp1
HG02809.hp1
HG02922.hp2
HG03139.hp2
NA19011.hp1
NA19030.hp1
NA19090.hp2
intron_variant MODIFIER c.294+15442_294+1544
others(8): Show 
c.294+15442_294+15445delATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATA
CTATATA
C
C
13 a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0014g0048
others(10): Show 
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0014g0048
a0001c0001t0018g0039
a0001c0001t0031g0021
a0001c0002t0002g0061
a0001c0002t0002g0109
a0001c0002t0011g0090
a0001c0002t0015g0081
a0001c0002t0023g0112
a0001c0002t0052g0111
a0001c0002t0058g0089
a0002c0003t0003g0140
13 HG01978.hp2
HG02071.hp1
HG02145.hp2
others(10): Show 
HG01978.hp2
HG02071.hp1
HG02145.hp2
HG02559.hp1
HG02723.hp1
HG02897.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp2
NA19003.hp2
NA19030.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.294+15440_294+1544
others(10): Show 
c.294+15440_294+15445delATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(1): Show 
CTATATATA
C
C
18 a0001c0001t0001g0023
a0001c0001t0001g0068
a0001c0001t0006g0040
others(15): Show 
a0001c0001t0001g0023
a0001c0001t0001g0068
a0001c0001t0006g0040
a0001c0001t0016g0144
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0002t0002g0062
a0001c0002t0002g0075
a0001c0002t0004g0079
a0001c0002t0004g0113
a0001c0002t0005g0082
a0001c0002t0011g0051
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0033
a0002c0003t0017g0014
a0003c0005t0001g0148
18 HG00558.hp1
HG01071.hp2
HG01109.hp2
others(15): Show 
HG00558.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG02071.hp2
HG02615.hp1
HG02735.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp1
HG03471.hp1
HG03490.hp2
HG03704.hp2
HG04115.hp2
NA19009.hp2
NA19240.hp1
NA20300.hp1
intron_variant MODIFIER c.294+15438_294+1544
others(12): Show 
c.294+15438_294+15445delATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(3): Show 
CTATATATATA
C
C
14 a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0143
others(11): Show 
a0001c0001t0001g0058
a0001c0001t0001g0116
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0066
a0001c0001t0009g0142
a0001c0001t0013g0057
a0001c0001t0021g0046
a0001c0001t0039g0004
a0001c0001t0043g0139
a0001c0002t0015g0078
a0001c0002t0019g0031
a0001c0002t0024g0100
a0001c0006t0018g0145
14 HG01256.hp1
HG01258.hp1
HG02055.hp2
others(11): Show 
HG01256.hp1
HG01258.hp1
HG02055.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02559.hp2
HG02630.hp1
HG02970.hp1
HG03041.hp1
HG03225.hp1
HG03579.hp1
HG04115.hp1
NA19043.hp1
intron_variant MODIFIER c.294+15436_294+1544
others(14): Show 
c.294+15436_294+15445delATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(5): Show 
CTATATATATATA
C
C
6 a0001c0001t0001g0147
a0001c0001t0005g0047
a0001c0001t0012g0059
others(3): Show 
a0001c0001t0001g0147
a0001c0001t0005g0047
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0032g0020
a0001c0004t0017g0007
6 HG01258.hp2
HG02056.hp1
HG02615.hp2
others(3): Show 
HG01258.hp2
HG02056.hp1
HG02615.hp2
HG02630.hp2
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.294+15434_294+1544
others(16): Show 
c.294+15434_294+15445delATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(7): Show 
CTATATATATATATA
C
C
3 a0001c0001t0026g0016
a0001c0001t0033g0141
a0001c0002t0004g0088
a0001c0001t0026g0016
a0001c0001t0033g0141
a0001c0002t0004g0088
3 HG00639.hp1
HG02698.hp2
HG03225.hp2
HG00639.hp1
HG02698.hp2
HG03225.hp2
intron_variant MODIFIER c.294+15432_294+1544
others(18): Show 
c.294+15432_294+15445delATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(9): Show 
CTATATATATATATATA
C
C
2 a0001c0002t0002g0095
a0001c0002t0004g0106
a0001c0002t0002g0095
a0001c0002t0004g0106
2 HG01891.hp2
HG03239.hp1
HG01891.hp2
HG03239.hp1
intron_variant MODIFIER c.294+15430_294+1544
others(20): Show 
c.294+15430_294+15445delATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(11): Show 
CTATATATATATATATATA
C
C
7 a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0038g0044
others(4): Show 
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0038g0044
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0056g0096
7 HG01261.hp1
HG01516.hp1
HG02056.hp2
others(4): Show 
HG01261.hp1
HG01516.hp1
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02735.hp2
HG03704.hp1
intron_variant MODIFIER c.294+15428_294+1544
others(22): Show 
c.294+15428_294+15445delATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(13): Show 
CTATATATATATATATATATA
C
C
9 a0001c0001t0001g0025
a0001c0001t0009g0036
a0001c0001t0014g0132
others(6): Show 
a0001c0001t0001g0025
a0001c0001t0009g0036
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0028g0034
9 HG01070.hp1
HG01071.hp1
HG02717.hp1
others(6): Show 
HG01070.hp1
HG01071.hp1
HG02717.hp1
HG02895.hp1
HG03139.hp1
NA18990.hp2
NA19002.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.294+15426_294+1544
others(24): Show 
c.294+15426_294+15445delATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(15): Show 
CTATATATATATATATATATATA
C
C
25 a0001c0001t0001g0045
a0001c0001t0001g0117
a0001c0001t0001g0122
others(22): Show 
a0001c0001t0001g0045
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0055g0091
25 HG00558.hp2
HG01109.hp1
HG01891.hp1
others(22): Show 
HG00558.hp2
HG01109.hp1
HG01891.hp1
HG01981.hp1
HG02083.hp2
HG02155.hp2
HG02622.hp1
HG02717.hp2
HG02723.hp2
HG03098.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+15424_294+1544
others(26): Show 
c.294+15424_294+15445delATATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(17): Show 
CTATATATATATATATATATATATA
C
C
10 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0133
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0002t0005g0097
a0001c0002t0050g0072
a0001c0002t0051g0099
10 HG01081.hp2
HG01169.hp2
HG01256.hp2
others(7): Show 
HG01081.hp2
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02055.hp1
HG02129.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.294+15422_294+1544
others(28): Show 
c.294+15422_294+15445delATATATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(19): Show 
CTATATATATATATATATATATATATA
C
C
2 a0001c0001t0003g0018
a0001c0002t0057g0110
a0001c0001t0003g0018
a0001c0002t0057g0110
2 HG03490.hp1
NA18906.hp2
HG03490.hp1
NA18906.hp2
intron_variant MODIFIER c.294+15420_294+1544
others(30): Show 
c.294+15420_294+15445delATATATATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(21): Show 
CTATATATATATATATATATATATATATA
C
C
4 a0001c0001t0021g0027
a0001c0001t0047g0003
a0001c0001t0049g0149
others(1): Show 
a0001c0001t0021g0027
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0004t0001g0009
4 HG02922.hp1
HG02965.hp2
HG03130.hp2
others(1): Show 
HG02922.hp1
HG02965.hp2
HG03130.hp2
NA20129.hp1
intron_variant MODIFIER c.294+15418_294+1544
others(32): Show 
c.294+15418_294+15445delATATATATATATATATATATATATAT
AT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(23): Show 
CTATATATATATATATATATATATATATATA
C
C
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.294+15416_294+1544
others(34): Show 
c.294+15416_294+15445delATATATATATATATATATATATATAT
ATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(25): Show 
CTATATATATATATATATATATATATATATATA
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+15414_294+1544
others(36): Show 
c.294+15414_294+15445delATATATATATATATATATATATATAT
ATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(27): Show 
CTATATATATATATATATATATATATATATATATA
C
C
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.294+15412_294+1544
others(38): Show 
c.294+15412_294+15445delATATATATATATATATATATATATAT
ATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524094 CTATATAT
others(33): Show 
CTATATATATATATATATATATATATATATATATATATATA
C
C
1 a0001c0001t0001g0019
a0001c0001t0001g0019
1 HG01081.hp1
HG01081.hp1
intron_variant MODIFIER c.294+15406_294+1544
others(44): Show 
c.294+15406_294+15445delATATATATATATATATATATATATAT
ATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524094
chr5:156524184 C
C
CTA
CTA
59 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0045
others(56): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0018
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0142
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0035g0127
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0093
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0106
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
59 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(56): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01169.hp2
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02559.hp1
HG02559.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03471.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.294+15505_294+1550
others(6): Show 
c.294+15505_294+15506dupTA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524184
chr5:156524184 C
C
CTATA
CTATA
11 a0001c0001t0001g0019
a0001c0001t0025g0035
a0001c0001t0030g0135
others(8): Show 
a0001c0001t0001g0019
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0038g0044
a0001c0002t0002g0080
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0022g0029
a0001c0002t0051g0099
a0001c0002t0053g0085
11 HG01081.hp1
HG01256.hp2
HG01261.hp1
others(8): Show 
HG01081.hp1
HG01256.hp2
HG01261.hp1
HG02040.hp2
HG02056.hp2
HG02083.hp1
HG03239.hp2
HG03453.hp1
NA19066.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.294+15503_294+1550
others(8): Show 
c.294+15503_294+15506dupTATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524184
chr5:156524184 C
C
CTATATA
CTATATA
3 a0001c0001t0001g0025
a0001c0001t0003g0125
a0001c0001t0040g0131
a0001c0001t0001g0025
a0001c0001t0003g0125
a0001c0001t0040g0131
3 HG01081.hp2
HG01109.hp1
HG03139.hp1
HG01081.hp2
HG01109.hp1
HG03139.hp1
intron_variant MODIFIER c.294+15501_294+1550
others(10): Show 
c.294+15501_294+15506dupTATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524184
chr5:156524184 CTA
CTA
C
C
30 a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
others(27): Show 
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0010g0094
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
a0004c0007t0020g0012
30 HG01243.hp1
HG01243.hp2
HG01256.hp1
others(27): Show 
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02258.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp2
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03486.hp2
HG03490.hp2
NA18906.hp2
NA18959.hp1
NA19010.hp2
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+15505_294+1550
others(6): Show 
c.294+15505_294+15506delTA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524184
chr5:156524184 CTATA
CTATA
C
C
2 a0001c0001t0029g0024
a0001c0001t0049g0149
a0001c0001t0029g0024
a0001c0001t0049g0149
2 HG03098.hp2
HG03130.hp2
HG03098.hp2
HG03130.hp2
intron_variant MODIFIER c.294+15503_294+1550
others(8): Show 
c.294+15503_294+15506delTATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524184
chr5:156524184 CTATATA
CTATATA
C
C
2 a0001c0001t0037g0042
a0001c0001t0047g0003
a0001c0001t0037g0042
a0001c0001t0047g0003
2 NA19043.hp2
NA20129.hp1
NA19043.hp2
NA20129.hp1
intron_variant MODIFIER c.294+15501_294+1550
others(10): Show 
c.294+15501_294+15506delTATATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524184
chr5:156524227 G
G
A
A
1 a0001c0002t0002g0095
a0001c0002t0002g0095
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.294+15525G>A
c.294+15525G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156524227
chr5:156524233 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+15531G>A
c.294+15531G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156524233
chr5:156524287 T
T
TTA
TTA
30 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(27): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0012g0010
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0047g0003
a0001c0002t0002g0095
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0053g0085
30 HG01070.hp1
HG01071.hp1
HG01081.hp2
others(27): Show 
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02965.hp2
HG03098.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
NA18522.hp2
NA19066.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+15603_294+1560
others(6): Show 
c.294+15603_294+15604dupAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524287
chr5:156524287 T
T
TTATA
TTATA
12 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(9): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0048g0053
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG00639.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG00639.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+15601_294+1560
others(8): Show 
c.294+15601_294+15604dupATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524287
chr5:156524287 T
T
TTATATA
TTATATA
3 a0001c0001t0009g0067
a0001c0001t0049g0149
a0001c0002t0057g0110
a0001c0001t0009g0067
a0001c0001t0049g0149
a0001c0002t0057g0110
3 HG02723.hp2
HG03130.hp2
NA18906.hp2
HG02723.hp2
HG03130.hp2
NA18906.hp2
intron_variant MODIFIER c.294+15599_294+1560
others(10): Show 
c.294+15599_294+15604dupATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524287
chr5:156524287 TTA
TTA
T
T
14 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(11): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0142
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0052g0111
a0001c0006t0018g0145
14 HG02145.hp1
HG02257.hp1
HG02258.hp2
others(11): Show 
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.294+15603_294+1560
others(6): Show 
c.294+15603_294+15604delAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156524287
chr5:156524553 G
G
A
A
55 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(52): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0056g0096
a0001c0002t0057g0110
55 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(52): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+15851G>A
c.294+15851G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156524553
chr5:156524568 C
C
T
T
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.294+15866C>T
c.294+15866C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156524568
chr5:156524680 G
G
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+15978G>A
c.294+15978G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156524680
chr5:156524890 G
G
A
A
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.294+16188G>A
c.294+16188G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156524890
chr5:156525136 A
A
G
G
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+16434A>G
c.294+16434A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156525136
chr5:156525329 C
C
T
T
55 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(52): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0056g0096
a0001c0002t0057g0110
55 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(52): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+16627C>T
c.294+16627C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156525329
chr5:156525354 G
G
C
C
1 a0001c0001t0007g0126
a0001c0001t0007g0126
1 HG02155.hp2
HG02155.hp2
intron_variant MODIFIER c.294+16652G>C
c.294+16652G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156525354
chr5:156525359 G
G
C
C
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.294+16657G>C
c.294+16657G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156525359
chr5:156525389 T
T
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+16687T>A
c.294+16687T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156525389
chr5:156525431 A
A
C
C
1 a0001c0001t0001g0023
a0001c0001t0001g0023
1 HG03704.hp2
HG03704.hp2
intron_variant MODIFIER c.294+16729A>C
c.294+16729A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156525431
chr5:156525450 G
G
T
T
4 a0001c0001t0001g0117
a0001c0001t0012g0010
a0001c0001t0020g0017
others(1): Show 
a0001c0001t0001g0117
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0002t0022g0029
4 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(1): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
NA20300.hp2
intron_variant MODIFIER c.294+16748G>T
c.294+16748G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156525450
chr5:156525695 G
G
C
C
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.294+16993G>C
c.294+16993G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156525695
chr5:156525764 A
A
G
G
21 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
others(18): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0056g0096
21 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(18): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03471.hp2
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA20129.hp2
intron_variant MODIFIER c.294+17062A>G
c.294+17062A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156525764
chr5:156525980 G
G
C
C
10 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(7): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01243.hp1
HG02615.hp1
HG02895.hp2
others(7): Show 
HG01243.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+17278G>C
c.294+17278G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156525980
chr5:156526043 C
C
T
T
1 a0002c0003t0003g0140
a0002c0003t0003g0140
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.294+17341C>T
c.294+17341C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156526043
chr5:156526116 G
G
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+17414G>A
c.294+17414G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156526116
chr5:156526201 A
A
G
G
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.294+17499A>G
c.294+17499A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156526201
chr5:156526261 GA
GA
G
G
4 a0001c0001t0009g0067
a0001c0001t0048g0053
a0001c0002t0050g0072
others(1): Show 
a0001c0001t0009g0067
a0001c0001t0048g0053
a0001c0002t0050g0072
a0001c0002t0057g0110
4 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(1): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.294+17568delA
c.294+17568delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156526261
chr5:156526498 A
A
T
T
91 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(88): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
91 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(88): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+17796A>T
c.294+17796A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156526498
chr5:156526528 T
T
C
C
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.294+17826T>C
c.294+17826T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156526528
chr5:156526530 G
G
A
A
14 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(11): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0142
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0052g0111
a0001c0006t0018g0145
14 HG02145.hp1
HG02257.hp1
HG02258.hp2
others(11): Show 
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.294+17828G>A
c.294+17828G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156526530
chr5:156526742 A
A
AT
AT
15 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(12): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0055g0091
15 HG00558.hp2
HG02083.hp2
HG02155.hp2
others(12): Show 
HG00558.hp2
HG02083.hp2
HG02155.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+18048dupT
c.294+18048dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156526742
chr5:156526909 A
A
G
G
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+18207A>G
c.294+18207A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156526909
chr5:156527090 C
C
T
T
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.294+18388C>T
c.294+18388C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156527090
chr5:156527309 G
G
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+18607G>A
c.294+18607G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156527309
chr5:156527340 G
G
T
T
2 a0001c0001t0006g0037
a0001c0001t0036g0043
a0001c0001t0006g0037
a0001c0001t0036g0043
2 HG02258.hp2
NA18906.hp1
HG02258.hp2
NA18906.hp1
intron_variant MODIFIER c.294+18638G>T
c.294+18638G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156527340
chr5:156527417 T
T
C
C
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.294+18715T>C
c.294+18715T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156527417
chr5:156527505 T
T
C
C
35 a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0122
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0142
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0006t0018g0145
35 HG00558.hp2
HG01243.hp2
HG01891.hp1
others(32): Show 
HG00558.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+18803T>C
c.294+18803T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156527505
chr5:156527628 C
C
T
T
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.294+18926C>T
c.294+18926C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156527628
chr5:156527904 C
C
T
T
20 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
others(17): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0056g0096
20 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(17): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA20129.hp2
intron_variant MODIFIER c.294+19202C>T
c.294+19202C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156527904
chr5:156527943 C
C
T
T
4 a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
others(1): Show 
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
4 HG02698.hp1
HG02897.hp2
HG03704.hp2
others(1): Show 
HG02698.hp1
HG02897.hp2
HG03704.hp2
NA20805.hp1
intron_variant MODIFIER c.294+19241C>T
c.294+19241C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156527943
chr5:156528325 A
A
T
T
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.294+19623A>T
c.294+19623A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156528325
chr5:156528380 A
A
C
C
8 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(5): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0052g0111
8 HG02258.hp2
HG02809.hp1
HG02922.hp2
others(5): Show 
HG02258.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp2
HG03471.hp1
NA18906.hp1
intron_variant MODIFIER c.294+19678A>C
c.294+19678A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156528380
chr5:156528554 T
T
C
C
1 a0001c0002t0004g0113
a0001c0002t0004g0113
1 HG01071.hp2
HG01071.hp2
intron_variant MODIFIER c.294+19852T>C
c.294+19852T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156528554
chr5:156528645 T
T
C
C
2 a0001c0001t0046g0121
a0004c0007t0020g0012
a0001c0001t0046g0121
a0004c0007t0020g0012
2 HG01261.hp2
HG01516.hp2
HG01261.hp2
HG01516.hp2
intron_variant MODIFIER c.294+19943T>C
c.294+19943T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156528645
chr5:156528699 T
T
C
C
2 a0001c0002t0002g0087
a0001c0002t0054g0073
a0001c0002t0002g0087
a0001c0002t0054g0073
2 NA18990.hp1
NA19057.hp1
NA18990.hp1
NA19057.hp1
intron_variant MODIFIER c.294+19997T>C
c.294+19997T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156528699
chr5:156529078 A
A
C
C
5 a0001c0001t0009g0067
a0001c0001t0048g0053
a0001c0001t0049g0149
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
5 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(2): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
NA18906.hp2
intron_variant MODIFIER c.294+20376A>C
c.294+20376A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156529078
chr5:156529115 A
A
G
G
90 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(87): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
90 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(87): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+20413A>G
c.294+20413A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156529115
chr5:156529119 G
G
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+20417G>A
c.294+20417G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156529119
chr5:156529127 G
G
A
A
1 a0001c0002t0004g0079
a0001c0002t0004g0079
1 NA20300.hp1
NA20300.hp1
intron_variant MODIFIER c.294+20425G>A
c.294+20425G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156529127
chr5:156529149 C
C
T
T
3 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0108
3 HG02698.hp2
NA18990.hp2
NA19002.hp1
HG02698.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.294+20447C>T
c.294+20447C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156529149
chr5:156529152 T
T
G
G
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.294+20450T>G
c.294+20450T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156529152
chr5:156529197 A
A
C
C
68 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(65): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
68 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(65): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+20495A>C
c.294+20495A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156529197
chr5:156529269 A
A
G
G
6 a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
others(3): Show 
a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(3): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA20129.hp1
intron_variant MODIFIER c.294+20567A>G
c.294+20567A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156529269
chr5:156529381 G
G
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+20679G>A
c.294+20679G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156529381
chr5:156529423 C
C
CA
CA
23 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(20): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0005g0097
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0022g0029
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
23 HG00639.hp2
HG01081.hp2
HG01109.hp1
others(20): Show 
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02258.hp1
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp2
NA18522.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19066.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+20742dupA
c.294+20742dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156529423
chr5:156529531 TA
TA
T
T
6 a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
others(3): Show 
a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(3): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA20129.hp1
intron_variant MODIFIER c.294+20839delA
c.294+20839delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156529531
chr5:156529802 T
T
A
A
6 a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
others(3): Show 
a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(3): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA20129.hp1
intron_variant MODIFIER c.294+21100T>A
c.294+21100T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156529802
chr5:156530031 C
C
A
A
47 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(44): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0056g0096
47 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(44): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03704.hp1
NA18522.hp2
NA18990.hp2
NA19002.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+21329C>A
c.294+21329C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156530031
chr5:156530091 G
G
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+21389G>A
c.294+21389G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156530091
chr5:156530410 G
G
C
C
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.294+21708G>C
c.294+21708G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156530410
chr5:156530420 C
C
T
T
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.294+21718C>T
c.294+21718C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156530420
chr5:156530429 G
G
T
T
73 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(70): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
73 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(70): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+21727G>T
c.294+21727G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156530429
chr5:156530594 T
T
C
C
19 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
others(16): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0028g0034
a0001c0002t0056g0096
19 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(16): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03704.hp1
NA18990.hp2
NA19002.hp1
NA20129.hp2
intron_variant MODIFIER c.294+21892T>C
c.294+21892T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156530594
chr5:156530636 G
G
A
A
12 a0001c0001t0009g0036
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0009g0036
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(9): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+21934G>A
c.294+21934G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156530636
chr5:156530867 C
C
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+22165C>A
c.294+22165C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156530867
chr5:156530877 C
C
T
T
12 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
others(9): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0056g0096
12 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(9): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.294+22175C>T
c.294+22175C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156530877
chr5:156530903 A
A
G
G
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+22201A>G
c.294+22201A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156530903
chr5:156531050 G
G
A
A
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+22348G>A
c.294+22348G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156531050
chr5:156531126 C
C
T
T
1 a0001c0002t0004g0114
a0001c0002t0004g0114
1 HG01261.hp1
HG01261.hp1
intron_variant MODIFIER c.294+22424C>T
c.294+22424C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156531126
chr5:156531150 C
C
T
T
7 a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
others(4): Show 
a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0057g0110
7 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(4): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
HG03471.hp2
NA18906.hp2
NA20129.hp1
intron_variant MODIFIER c.294+22448C>T
c.294+22448C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156531150
chr5:156531270 C
C
A
A
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.294+22568C>A
c.294+22568C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156531270
chr5:156531329 A
A
G
G
1 a0001c0001t0001g0023
a0001c0001t0001g0023
1 HG03704.hp2
HG03704.hp2
intron_variant MODIFIER c.294+22627A>G
c.294+22627A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156531329
chr5:156531361 G
G
T
T
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.294+22659G>T
c.294+22659G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156531361
chr5:156531699 G
G
A
A
1 a0001c0001t0018g0039
a0001c0001t0018g0039
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.294+22997G>A
c.294+22997G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156531699
chr5:156531729 A
A
G
G
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.294+23027A>G
c.294+23027A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156531729
chr5:156531793 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+23091A>G
c.294+23091A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156531793
chr5:156531803 ACT
ACT
A
A
6 a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
others(3): Show 
a0001c0001t0009g0067
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(3): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA20129.hp1
intron_variant MODIFIER c.294+23104_294+2310
others(6): Show 
c.294+23104_294+23105delCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156531803
chr5:156532031 A
A
G
G
1 a0001c0002t0024g0063
a0001c0002t0024g0063
1 NA19003.hp1
NA19003.hp1
intron_variant MODIFIER c.294+23329A>G
c.294+23329A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156532031
chr5:156532130 A
A
G
G
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.294+23428A>G
c.294+23428A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156532130
chr5:156532219 C
C
T
T
2 a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0129
a0001c0001t0005g0130
2 NA19009.hp1
NA19057.hp2
NA19009.hp1
NA19057.hp2
intron_variant MODIFIER c.294+23517C>T
c.294+23517C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156532219
chr5:156532463 A
A
T
T
17 a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
others(14): Show 
a0001c0001t0001g0052
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0026g0016
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0028g0034
a0001c0002t0056g0096
17 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(14): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02257.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.294+23761A>T
c.294+23761A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156532463
chr5:156532664 C
C
T
T
74 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(71): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
74 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(71): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+23962C>T
c.294+23962C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156532664
chr5:156532778 T
T
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+24076T>C
c.294+24076T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156532778
chr5:156533079 G
G
A
A
56 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(53): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0056g0096
a0001c0002t0057g0110
56 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(53): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+24377G>A
c.294+24377G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156533079
chr5:156533159 G
G
T
T
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+24457G>T
c.294+24457G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156533159
chr5:156533320 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+24618G>A
c.294+24618G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156533320
chr5:156533411 A
A
G
G
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.294+24709A>G
c.294+24709A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156533411
chr5:156533425 A
A
G
G
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.294+24723A>G
c.294+24723A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156533425
chr5:156533444 T
T
C
C
2 a0001c0001t0046g0121
a0004c0007t0020g0012
a0001c0001t0046g0121
a0004c0007t0020g0012
2 HG01261.hp2
HG01516.hp2
HG01261.hp2
HG01516.hp2
intron_variant MODIFIER c.294+24742T>C
c.294+24742T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156533444
chr5:156533526 T
T
G
G
1 a0001c0002t0002g0098
a0001c0002t0002g0098
1 NA18964.hp1
NA18964.hp1
intron_variant MODIFIER c.294+24824T>G
c.294+24824T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156533526
chr5:156533666 A
A
G
G
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+24964A>G
c.294+24964A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156533666
chr5:156533795 A
A
T
T
101 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(98): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0006t0018g0145
a0003c0005t0001g0148
101 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(98): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+25093A>T
c.294+25093A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156533795
chr5:156533927 G
G
A
A
78 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(75): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0006t0018g0145
78 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(75): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+25225G>A
c.294+25225G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156533927
chr5:156533980 ACTTTT
ACTTTT
A
A
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+25284_294+2528
others(9): Show 
c.294+25284_294+25288delCTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156533980
chr5:156534061 G
G
A
A
1 a0001c0002t0002g0077
a0001c0002t0002g0077
1 NA18966.hp2
NA18966.hp2
intron_variant MODIFIER c.294+25359G>A
c.294+25359G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156534061
chr5:156534078 G
G
A
A
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+25376G>A
c.294+25376G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156534078
chr5:156534176 C
C
CT
CT
34 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
others(31): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0002t0002g0070
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
34 HG00558.hp2
HG01081.hp2
HG01109.hp1
others(31): Show 
HG00558.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+25486dupT
c.294+25486dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156534176
chr5:156534176 C
C
CTT
CTT
44 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0068
others(41): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
44 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(41): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.294+25485_294+2548
others(6): Show 
c.294+25485_294+25486dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156534176
chr5:156534192 A
A
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+25490A>T
c.294+25490A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156534192
chr5:156534342 C
C
A
A
1 a0001c0001t0001g0052
a0001c0001t0001g0052
1 HG02257.hp2
HG02257.hp2
intron_variant MODIFIER c.294+25640C>A
c.294+25640C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156534342
chr5:156534355 C
C
T
T
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.294+25653C>T
c.294+25653C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156534355
chr5:156534364 A
A
G
G
7 a0001c0001t0001g0122
a0001c0001t0007g0123
a0001c0001t0007g0124
others(4): Show 
a0001c0001t0001g0122
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0002t0008g0101
7 HG02083.hp2
HG02155.hp2
NA18959.hp2
others(4): Show 
HG02083.hp2
HG02155.hp2
NA18959.hp2
NA18966.hp1
NA18985.hp2
NA19011.hp2
NA19066.hp1
intron_variant MODIFIER c.294+25662A>G
c.294+25662A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156534364
chr5:156534509 C
C
A
A
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.294+25807C>A
c.294+25807C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156534509
chr5:156534763 G
G
A
A
10 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(7): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
10 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(7): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA20129.hp1
intron_variant MODIFIER c.294+26061G>A
c.294+26061G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156534763
chr5:156534822 G
G
A
A
1 a0001c0002t0028g0034
a0001c0002t0028g0034
1 HG02717.hp1
HG02717.hp1
intron_variant MODIFIER c.294+26120G>A
c.294+26120G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156534822
chr5:156534853 A
A
G
G
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+26151A>G
c.294+26151A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156534853
chr5:156534906 A
A
T
T
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0006t0018g0145
82 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(79): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+26204A>T
c.294+26204A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156534906
chr5:156535056 C
C
A
A
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.294+26354C>A
c.294+26354C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156535056
chr5:156535165 T
T
G
G
15 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(12): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+26463T>G
c.294+26463T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156535165
chr5:156535217 C
C
A
A
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+26515C>A
c.294+26515C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156535217
chr5:156535582 C
C
T
T
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.294+26880C>T
c.294+26880C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156535582
chr5:156535639 C
C
T
T
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+26937C>T
c.294+26937C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156535639
chr5:156535653 C
C
T
T
35 a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0122
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0142
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0006t0018g0145
35 HG00558.hp2
HG01243.hp2
HG01891.hp1
others(32): Show 
HG00558.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+26951C>T
c.294+26951C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156535653
chr5:156535964 C
C
T
T
9 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.294+27262C>T
c.294+27262C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156535964
chr5:156535986 A
A
G
G
11 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(8): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+27284A>G
c.294+27284A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156535986
chr5:156536095 G
G
T
T
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.294+27393G>T
c.294+27393G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156536095
chr5:156536144 C
C
CT
CT
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+27447dupT
c.294+27447dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156536144
chr5:156536450 G
G
A
A
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.294+27748G>A
c.294+27748G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156536450
chr5:156536481 T
T
C
C
4 a0001c0001t0031g0021
a0001c0001t0046g0121
a0001c0002t0059g0002
others(1): Show 
a0001c0001t0031g0021
a0001c0001t0046g0121
a0001c0002t0059g0002
a0004c0007t0020g0012
4 HG01261.hp2
HG01516.hp2
HG01978.hp2
others(1): Show 
HG01261.hp2
HG01516.hp2
HG01978.hp2
NA18959.hp1
intron_variant MODIFIER c.294+27779T>C
c.294+27779T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156536481
chr5:156536567 C
C
T
T
4 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(1): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0108
4 HG02257.hp2
HG02698.hp2
NA18990.hp2
others(1): Show 
HG02257.hp2
HG02698.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.294+27865C>T
c.294+27865C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156536567
chr5:156536589 G
G
GTGTT
GTGTT
15 a0001c0001t0001g0068
a0001c0001t0009g0067
a0001c0001t0012g0059
others(12): Show 
a0001c0001t0001g0068
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0050g0072
a0001c0002t0057g0110
15 HG01109.hp2
HG01243.hp1
HG02055.hp1
others(12): Show 
HG01109.hp2
HG01243.hp1
HG02055.hp1
HG02615.hp1
HG02630.hp1
HG02723.hp2
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA18906.hp2
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+27913_294+2791
others(8): Show 
c.294+27913_294+27916dupGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156536589
chr5:156536589 G
G
GTGTTTGT
others(1): Show 
GTGTTTGTT
15 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(12): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0142
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0002t0052g0111
a0001c0006t0018g0145
15 HG02145.hp1
HG02257.hp1
HG02258.hp2
others(12): Show 
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.294+27909_294+2791
others(12): Show 
c.294+27909_294+27916dupGTTTGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156536589
chr5:156536589 G
G
GTGTTTGT
others(5): Show 
GTGTTTGTTTGTT
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.294+27905_294+2791
others(16): Show 
c.294+27905_294+27916dupGTTTGTTTGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156536589
chr5:156536589 GTGTT
GTGTT
G
G
34 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
others(31): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
34 HG00558.hp2
HG01081.hp2
HG01109.hp1
others(31): Show 
HG00558.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02622.hp1
HG02717.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+27913_294+2791
others(8): Show 
c.294+27913_294+27916delGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156536589
chr5:156536589 GTGTTTGT
others(9): Show 
GTGTTTGTTTGTTTGTT
G
G
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+27901_294+2791
others(20): Show 
c.294+27901_294+27916delGTTTGTTTGTTTGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156536589
chr5:156536630 T
T
G
G
64 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(61): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
64 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(61): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+27928T>G
c.294+27928T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156536630
chr5:156536726 G
G
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.294+28024G>A
c.294+28024G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156536726
chr5:156536854 G
G
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.294+28152G>A
c.294+28152G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156536854
chr5:156537033 G
G
A
A
1 a0001c0001t0001g0019
a0001c0001t0001g0019
1 HG01081.hp1
HG01081.hp1
intron_variant MODIFIER c.294+28331G>A
c.294+28331G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537033
chr5:156537244 T
T
C
C
63 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(60): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
63 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(60): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+28542T>C
c.294+28542T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537244
chr5:156537386 G
G
A
A
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+28684G>A
c.294+28684G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537386
chr5:156537459 C
C
CCA
CCA
22 a0001c0001t0001g0019
a0001c0001t0001g0147
a0001c0001t0003g0013
others(19): Show 
a0001c0001t0001g0019
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0066
a0001c0001t0026g0016
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0039g0004
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0044g0026
a0001c0002t0057g0110
a0001c0002t0059g0002
a0002c0003t0003g0140
22 HG01081.hp1
HG02040.hp1
HG02056.hp1
others(19): Show 
HG01081.hp1
HG02040.hp1
HG02056.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02970.hp1
HG03130.hp2
HG03471.hp2
HG04115.hp1
NA18906.hp1
NA18906.hp2
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp1
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.294+28804_294+2880
others(6): Show 
c.294+28804_294+28805dupCA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537459 C
C
CCACA
CCACA
9 a0001c0001t0001g0023
a0001c0001t0003g0022
a0001c0001t0006g0040
others(6): Show 
a0001c0001t0001g0023
a0001c0001t0003g0022
a0001c0001t0006g0040
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0031g0021
a0001c0001t0042g0065
a0001c0002t0002g0080
a0001c0002t0002g0109
9 HG01070.hp1
HG01071.hp1
HG01978.hp2
others(6): Show 
HG01070.hp1
HG01071.hp1
HG01978.hp2
HG02040.hp2
HG02071.hp1
HG02897.hp2
HG02922.hp2
HG03471.hp1
HG03704.hp2
intron_variant MODIFIER c.294+28802_294+2880
others(8): Show 
c.294+28802_294+28805dupCACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537459 C
C
CCACACA
CCACACA
12 a0001c0001t0001g0052
a0001c0001t0001g0116
a0001c0001t0001g0146
others(9): Show 
a0001c0001t0001g0052
a0001c0001t0001g0116
a0001c0001t0001g0146
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0083
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0006t0018g0145
12 HG01261.hp1
HG01516.hp1
HG02055.hp2
others(9): Show 
HG01261.hp1
HG01516.hp1
HG02055.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG03041.hp2
HG03453.hp2
HG03704.hp1
NA19030.hp1
intron_variant MODIFIER c.294+28800_294+2880
others(10): Show 
c.294+28800_294+28805dupCACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537459 C
C
CCACACAC
others(1): Show 
CCACACACA
6 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0005g0047
others(3): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0005g0047
a0001c0001t0038g0044
a0001c0002t0004g0104
a0001c0002t0004g0106
6 HG01258.hp2
HG01891.hp2
HG02056.hp2
others(3): Show 
HG01258.hp2
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02559.hp2
HG03579.hp1
intron_variant MODIFIER c.294+28798_294+2880
others(12): Show 
c.294+28798_294+28805dupCACACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537459 C
C
CCACACAC
others(3): Show 
CCACACACACA
5 a0001c0001t0009g0142
a0001c0001t0021g0046
a0001c0002t0002g0095
others(2): Show 
a0001c0001t0009g0142
a0001c0001t0021g0046
a0001c0002t0002g0095
a0001c0002t0011g0084
a0001c0002t0024g0100
5 HG01243.hp2
HG01256.hp1
HG01258.hp1
others(2): Show 
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG03239.hp1
NA19043.hp1
intron_variant MODIFIER c.294+28796_294+2880
others(14): Show 
c.294+28796_294+28805dupCACACACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537459 C
C
CCACACAC
others(5): Show 
CCACACACACACA
1 a0001c0002t0004g0088
a0001c0002t0004g0088
1 HG00639.hp1
HG00639.hp1
intron_variant MODIFIER c.294+28794_294+2880
others(16): Show 
c.294+28794_294+28805dupCACACACACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537459 CCA
CCA
C
C
19 a0001c0001t0001g0054
a0001c0001t0003g0056
a0001c0001t0014g0055
others(16): Show 
a0001c0001t0001g0054
a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0033g0141
a0001c0001t0046g0121
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0093
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0004g0079
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0051g0099
a0001c0002t0061g0103
a0004c0007t0020g0012
19 HG01070.hp2
HG01169.hp1
HG01261.hp2
others(16): Show 
HG01070.hp2
HG01169.hp1
HG01261.hp2
HG01516.hp2
HG01981.hp2
HG02071.hp2
HG02155.hp1
HG02622.hp2
HG02809.hp2
HG03225.hp2
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA19003.hp2
NA19009.hp2
NA19011.hp1
NA19066.hp2
NA19090.hp2
NA20300.hp1
intron_variant MODIFIER c.294+28804_294+2880
others(6): Show 
c.294+28804_294+28805delCA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537459 CCACA
CCACA
C
C
4 a0001c0001t0021g0027
a0001c0002t0002g0062
a0001c0002t0002g0107
others(1): Show 
a0001c0001t0021g0027
a0001c0002t0002g0062
a0001c0002t0002g0107
a0001c0002t0054g0073
4 HG00558.hp1
HG02129.hp1
HG02965.hp2
others(1): Show 
HG00558.hp1
HG02129.hp1
HG02965.hp2
NA18990.hp1
intron_variant MODIFIER c.294+28802_294+2880
others(8): Show 
c.294+28802_294+28805delCACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537459 CCACACA
CCACACA
C
C
9 a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0001g0133
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0002t0005g0097
9 HG01169.hp2
HG01256.hp2
HG01978.hp1
others(6): Show 
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG03239.hp2
NA20805.hp2
intron_variant MODIFIER c.294+28800_294+2880
others(10): Show 
c.294+28800_294+28805delCACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537459 CCACACAC
others(1): Show 
CCACACACA
C
C
4 a0001c0001t0003g0125
a0001c0001t0029g0024
a0001c0001t0040g0131
others(1): Show 
a0001c0001t0003g0125
a0001c0001t0029g0024
a0001c0001t0040g0131
a0001c0002t0022g0029
4 HG01081.hp2
HG01109.hp1
HG03098.hp2
others(1): Show 
HG01081.hp2
HG01109.hp1
HG03098.hp2
NA20300.hp2
intron_variant MODIFIER c.294+28798_294+2880
others(12): Show 
c.294+28798_294+28805delCACACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537459 CCACACAC
others(3): Show 
CCACACACACA
C
C
3 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0002t0028g0034
a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0002t0028g0034
3 HG02717.hp1
HG03139.hp1
NA20129.hp2
HG02717.hp1
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.294+28796_294+2880
others(14): Show 
c.294+28796_294+28805delCACACACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537459 CCACACAC
others(5): Show 
CCACACACACACA
C
C
1 a0001c0001t0001g0050
a0001c0001t0001g0050
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.294+28794_294+2880
others(16): Show 
c.294+28794_294+28805delCACACACACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537459 CCACACAC
others(7): Show 
CCACACACACACACA
C
C
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+28792_294+2880
others(18): Show 
c.294+28792_294+28805delCACACACACACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537459
chr5:156537502 CACACAG
CACACAG
C
C
2 a0001c0001t0001g0008
a0001c0002t0013g0030
a0001c0001t0001g0008
a0001c0002t0013g0030
2 HG02970.hp2
NA18522.hp1
HG02970.hp2
NA18522.hp1
intron_variant MODIFIER c.294+28801_294+2880
others(10): Show 
c.294+28801_294+28806delACACAG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537502
chr5:156537504 CACAG
CACAG
C
C
8 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(5): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
8 HG01243.hp1
HG02615.hp1
HG02895.hp2
others(5): Show 
HG01243.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.294+28803_294+2880
others(8): Show 
c.294+28803_294+28806delACAG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537504
chr5:156537506 CAG
CAG
C
C
5 a0001c0001t0001g0068
a0001c0001t0018g0039
a0001c0001t0043g0139
others(2): Show 
a0001c0001t0001g0068
a0001c0001t0018g0039
a0001c0001t0043g0139
a0001c0002t0002g0061
a0001c0002t0023g0112
5 HG01109.hp2
HG02630.hp1
HG03098.hp1
others(2): Show 
HG01109.hp2
HG02630.hp1
HG03098.hp1
HG03486.hp2
NA19030.hp2
intron_variant MODIFIER c.294+28805_294+2880
others(6): Show 
c.294+28805_294+28806delAG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537506
chr5:156537508 G
G
C
C
14 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(11): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0042g0065
a0001c0002t0004g0106
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0052g0111
a0001c0004t0001g0009
a0001c0004t0017g0007
14 HG01243.hp2
HG01891.hp2
HG02258.hp1
others(11): Show 
HG01243.hp2
HG01891.hp2
HG02258.hp1
HG02258.hp2
HG02630.hp2
HG02809.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp2
HG03471.hp1
NA18906.hp1
NA19043.hp2
intron_variant MODIFIER c.294+28806G>C
c.294+28806G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537508
chr5:156537578 G
G
T
T
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.294+28876G>T
c.294+28876G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537578
chr5:156537580 G
G
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+28878G>T
c.294+28878G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537580
chr5:156537684 A
A
T
T
1 a0001c0002t0024g0063
a0001c0002t0024g0063
1 NA19003.hp1
NA19003.hp1
intron_variant MODIFIER c.294+28982A>T
c.294+28982A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537684
chr5:156537723 T
T
C
C
1 a0001c0002t0008g0006
a0001c0002t0008g0006
1 HG02040.hp1
HG02040.hp1
intron_variant MODIFIER c.294+29021T>C
c.294+29021T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537723
chr5:156537844 GA
GA
G
G
11 a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0012g0010
others(8): Show 
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0022g0029
a0001c0004t0001g0009
11 HG00558.hp1
HG01981.hp1
HG02129.hp1
others(8): Show 
HG00558.hp1
HG01981.hp1
HG02129.hp1
HG02622.hp1
HG02717.hp2
HG02922.hp1
HG03098.hp2
NA18522.hp2
NA18985.hp1
NA19043.hp2
NA20300.hp2
intron_variant MODIFIER c.294+29154delA
c.294+29154delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537844
chr5:156537844 GAA
GAA
G
G
47 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0068
others(44): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
47 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(44): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03579.hp2
HG03704.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.294+29153_294+2915
others(6): Show 
c.294+29153_294+29154delAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156537844
chr5:156537862 T
T
C
C
9 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.294+29160T>C
c.294+29160T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537862
chr5:156537947 G
G
A
A
2 a0001c0001t0001g0054
a0001c0001t0033g0141
a0001c0001t0001g0054
a0001c0001t0033g0141
2 HG02622.hp2
HG03225.hp2
HG02622.hp2
HG03225.hp2
intron_variant MODIFIER c.294+29245G>A
c.294+29245G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156537947
chr5:156538004 C
C
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+29302C>T
c.294+29302C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156538004
chr5:156538005 G
G
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+29303G>T
c.294+29303G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156538005
chr5:156538055 A
A
G
G
2 a0001c0001t0046g0121
a0004c0007t0020g0012
a0001c0001t0046g0121
a0004c0007t0020g0012
2 HG01261.hp2
HG01516.hp2
HG01261.hp2
HG01516.hp2
intron_variant MODIFIER c.294+29353A>G
c.294+29353A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156538055
chr5:156538062 T
T
C
C
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.294+29360T>C
c.294+29360T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156538062
chr5:156538105 G
G
GA
GA
63 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(60): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
63 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(60): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+29414dupA
c.294+29414dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156538105
chr5:156538331 G
G
A
A
63 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(60): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
63 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(60): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+29629G>A
c.294+29629G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156538331
chr5:156538696 C
C
T
T
1 a0001c0002t0002g0102
a0001c0002t0002g0102
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.294+29994C>T
c.294+29994C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156538696
chr5:156538777 G
G
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+30075G>A
c.294+30075G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156538777
chr5:156538817 G
G
T
T
2 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0003g0056
a0001c0001t0014g0055
2 HG01070.hp2
HG01169.hp1
HG01070.hp2
HG01169.hp1
intron_variant MODIFIER c.294+30115G>T
c.294+30115G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156538817
chr5:156538937 T
T
G
G
9 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.294+30235T>G
c.294+30235T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156538937
chr5:156538957 G
G
T
T
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.294+30255G>T
c.294+30255G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156538957
chr5:156538989 T
T
C
C
1 a0001c0002t0010g0094
a0001c0002t0010g0094
1 NA19010.hp2
NA19010.hp2
intron_variant MODIFIER c.294+30287T>C
c.294+30287T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156538989
chr5:156539077 G
G
T
T
104 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(101): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
104 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(101): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+30375G>T
c.294+30375G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156539077
chr5:156539320 T
T
C
C
1 a0001c0001t0003g0013
a0001c0001t0003g0013
1 NA20805.hp1
NA20805.hp1
intron_variant MODIFIER c.294+30618T>C
c.294+30618T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156539320
chr5:156539339 G
G
C
C
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+30637G>C
c.294+30637G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156539339
chr5:156539412 T
T
C
C
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.294+30710T>C
c.294+30710T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156539412
chr5:156539473 T
T
C
C
19 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+30771T>C
c.294+30771T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156539473
chr5:156539552 C
C
T
T
1 a0001c0002t0061g0103
a0001c0002t0061g0103
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.294+30850C>T
c.294+30850C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156539552
chr5:156539553 T
T
A
A
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.294+30851T>A
c.294+30851T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156539553
chr5:156539633 T
T
C
C
81 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(78): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0006t0018g0145
81 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(78): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+30931T>C
c.294+30931T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156539633
chr5:156539651 C
C
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+30949C>T
c.294+30949C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156539651
chr5:156539948 A
A
G
G
1 a0001c0002t0024g0063
a0001c0002t0024g0063
1 NA19003.hp1
NA19003.hp1
intron_variant MODIFIER c.294+31246A>G
c.294+31246A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156539948
chr5:156539951 C
C
T
T
90 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(87): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
90 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(87): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+31249C>T
c.294+31249C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156539951
chr5:156540020 A
A
C
C
60 a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0058
others(57): Show 
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0006t0018g0145
60 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(57): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.294+31318A>C
c.294+31318A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156540020
chr5:156540300 G
G
A
A
15 a0001c0001t0001g0025
a0001c0001t0003g0119
a0001c0001t0005g0047
others(12): Show 
a0001c0001t0001g0025
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0028g0034
a0001c0002t0056g0096
15 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(12): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03704.hp1
NA20129.hp2
intron_variant MODIFIER c.294+31598G>A
c.294+31598G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156540300
chr5:156540427 T
T
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+31725T>C
c.294+31725T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156540427
chr5:156540499 C
C
T
T
81 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(78): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0006t0018g0145
81 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(78): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+31797C>T
c.294+31797C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156540499
chr5:156540552 C
C
T
T
16 a0001c0001t0001g0025
a0001c0001t0003g0119
a0001c0001t0005g0047
others(13): Show 
a0001c0001t0001g0025
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0056g0096
16 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(13): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03704.hp1
NA20129.hp2
intron_variant MODIFIER c.294+31850C>T
c.294+31850C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156540552
chr5:156540634 A
A
G
G
31 a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0122
others(28): Show 
a0001c0001t0001g0045
a0001c0001t0001g0058
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0142
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0006t0018g0145
31 HG00558.hp2
HG01243.hp2
HG01891.hp1
others(28): Show 
HG00558.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+31932A>G
c.294+31932A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156540634
chr5:156540653 G
G
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+31951G>A
c.294+31951G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156540653
chr5:156540718 C
C
T
T
81 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(78): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0006t0018g0145
81 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(78): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+32016C>T
c.294+32016C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156540718
chr5:156540809 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+32107A>G
c.294+32107A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156540809
chr5:156540909 C
C
T
T
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+32207C>T
c.294+32207C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156540909
chr5:156540964 T
T
A
A
29 a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0003g0119
others(26): Show 
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0056g0096
29 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(26): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03704.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.294+32262T>A
c.294+32262T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156540964
chr5:156541163 A
A
G
G
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+32461A>G
c.294+32461A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156541163
chr5:156541261 G
G
A
A
80 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(77): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0006t0018g0145
80 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(77): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+32559G>A
c.294+32559G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156541261
chr5:156541404 G
G
T
T
19 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+32702G>T
c.294+32702G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156541404
chr5:156541773 T
T
G
G
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.294+33071T>G
c.294+33071T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156541773
chr5:156541779 A
A
G
G
1 a0001c0002t0052g0111
a0001c0002t0052g0111
1 HG03453.hp2
HG03453.hp2
intron_variant MODIFIER c.294+33077A>G
c.294+33077A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156541779
chr5:156541822 T
T
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+33120T>A
c.294+33120T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156541822
chr5:156541853 G
G
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+33151G>A
c.294+33151G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156541853
chr5:156541988 T
T
C
C
44 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0068
others(41): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
44 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(41): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.294+33286T>C
c.294+33286T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156541988
chr5:156542136 T
T
C
C
13 a0001c0001t0001g0068
a0001c0001t0009g0036
a0001c0001t0012g0059
others(10): Show 
a0001c0001t0001g0068
a0001c0001t0009g0036
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
13 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(10): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+33434T>C
c.294+33434T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156542136
chr5:156542152 A
A
G
G
9 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.294+33450A>G
c.294+33450A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156542152
chr5:156542259 TA
TA
T
T
30 a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0003g0119
others(27): Show 
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0056g0096
30 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(27): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03704.hp1
NA19003.hp2
NA19030.hp2
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.294+33565delA
c.294+33565delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156542259
chr5:156542303 A
A
G
G
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.294+33601A>G
c.294+33601A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156542303
chr5:156542343 C
C
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+33641C>T
c.294+33641C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156542343
chr5:156542516 G
G
A
A
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.294+33814G>A
c.294+33814G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156542516
chr5:156542541 C
C
T
T
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.294+33839C>T
c.294+33839C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156542541
chr5:156542815 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+34113G>A
c.294+34113G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156542815
chr5:156542949 T
T
A
A
1 a0001c0002t0015g0086
a0001c0002t0015g0086
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.294+34247T>A
c.294+34247T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156542949
chr5:156543277 C
C
G
G
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.294+34575C>G
c.294+34575C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156543277
chr5:156543456 A
A
C
C
19 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+34754A>C
c.294+34754A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156543456
chr5:156543466 G
G
T
T
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.294+34764G>T
c.294+34764G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156543466
chr5:156543476 G
G
A
A
80 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(77): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0006t0018g0145
80 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(77): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+34774G>A
c.294+34774G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156543476
chr5:156543597 C
C
T
T
123 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0023
others(120): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0080
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
123 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(120): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.294+34895C>T
c.294+34895C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156543597
chr5:156543606 T
T
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+34904T>C
c.294+34904T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156543606
chr5:156543869 C
C
T
T
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.294+35167C>T
c.294+35167C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156543869
chr5:156543901 C
C
G
G
123 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0023
others(120): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0080
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
123 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(120): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.294+35199C>G
c.294+35199C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156543901
chr5:156544010 G
G
A
A
1 a0001c0002t0002g0070
a0001c0002t0002g0070
1 NA18985.hp1
NA18985.hp1
intron_variant MODIFIER c.294+35308G>A
c.294+35308G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156544010
chr5:156544209 T
T
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+35507T>A
c.294+35507T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156544209
chr5:156544312 C
C
T
T
38 a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0001g0054
others(35): Show 
a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0113
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0010g0094
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
a0004c0007t0020g0012
38 HG01070.hp2
HG01071.hp2
HG01169.hp1
others(35): Show 
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02145.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18959.hp1
NA18964.hp1
NA19010.hp2
NA19240.hp2
NA20129.hp1
NA20805.hp1
intron_variant MODIFIER c.294+35610C>T
c.294+35610C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156544312
chr5:156544501 A
A
G
G
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.294+35799A>G
c.294+35799A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156544501
chr5:156544616 TA
TA
T
T
20 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(17): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0030g0135
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
20 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(17): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02895.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+35928delA
c.294+35928delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156544616
chr5:156544628 A
A
C
C
2 a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0004t0001g0009
a0001c0004t0017g0007
2 HG02630.hp2
HG02922.hp1
HG02630.hp2
HG02922.hp1
intron_variant MODIFIER c.294+35926A>C
c.294+35926A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156544628
chr5:156544637 C
C
G
G
39 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0068
others(36): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
39 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(36): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.294+35935C>G
c.294+35935C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156544637
chr5:156544783 T
T
G
G
87 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(84): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
87 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(84): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+36081T>G
c.294+36081T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156544783
chr5:156544828 A
A
G
G
4 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(1): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0108
4 HG02257.hp2
HG02698.hp2
NA18990.hp2
others(1): Show 
HG02257.hp2
HG02698.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.294+36126A>G
c.294+36126A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156544828
chr5:156545564 C
C
T
T
13 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(10): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
13 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(10): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+36862C>T
c.294+36862C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156545564
chr5:156545565 G
G
T
T
10 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(7): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0002t0052g0111
a0001c0006t0018g0145
10 HG02145.hp1
HG02257.hp1
HG02258.hp2
others(7): Show 
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.294+36863G>T
c.294+36863G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156545565
chr5:156545583 G
G
A
A
19 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+36881G>A
c.294+36881G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156545583
chr5:156545624 C
C
T
T
8 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(5): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
8 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(5): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.294+36922C>T
c.294+36922C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156545624
chr5:156545631 C
C
T
T
4 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(1): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0108
4 HG02257.hp2
HG02698.hp2
NA18990.hp2
others(1): Show 
HG02257.hp2
HG02698.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.294+36929C>T
c.294+36929C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156545631
chr5:156545770 C
C
T
T
15 a0001c0001t0001g0025
a0001c0001t0003g0119
a0001c0001t0005g0047
others(12): Show 
a0001c0001t0001g0025
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0028g0034
a0001c0002t0056g0096
15 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(12): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03704.hp1
NA20129.hp2
intron_variant MODIFIER c.294+37068C>T
c.294+37068C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156545770
chr5:156545820 C
C
T
T
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+37118C>T
c.294+37118C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156545820
chr5:156545939 A
A
G
G
1 a0001c0002t0005g0097
a0001c0002t0005g0097
1 NA20805.hp2
NA20805.hp2
intron_variant MODIFIER c.294+37237A>G
c.294+37237A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156545939
chr5:156545940 G
G
A
A
13 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(10): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0052g0111
a0001c0006t0018g0145
13 HG01243.hp2
HG02145.hp1
HG02257.hp1
others(10): Show 
HG01243.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.294+37238G>A
c.294+37238G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156545940
chr5:156546249 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+37547A>G
c.294+37547A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156546249
chr5:156546343 T
T
C
C
1 a0001c0002t0023g0112
a0001c0002t0023g0112
1 HG03098.hp1
HG03098.hp1
intron_variant MODIFIER c.294+37641T>C
c.294+37641T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156546343
chr5:156546348 A
A
G
G
8 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(5): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
8 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(5): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.294+37646A>G
c.294+37646A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156546348
chr5:156546458 A
A
C
C
2 a0001c0001t0032g0020
a0001c0002t0005g0082
a0001c0001t0032g0020
a0001c0002t0005g0082
2 HG02056.hp1
HG03490.hp2
HG02056.hp1
HG03490.hp2
intron_variant MODIFIER c.294+37756A>C
c.294+37756A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156546458
chr5:156546608 GA
GA
G
G
75 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(72): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
75 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(72): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+37916delA
c.294+37916delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156546608
chr5:156546763 A
A
G
G
5 a0001c0001t0001g0008
a0001c0002t0002g0061
a0001c0002t0023g0112
others(2): Show 
a0001c0001t0001g0008
a0001c0002t0002g0061
a0001c0002t0023g0112
a0001c0004t0001g0009
a0001c0004t0017g0007
5 HG02630.hp2
HG02922.hp1
HG03098.hp1
others(2): Show 
HG02630.hp2
HG02922.hp1
HG03098.hp1
HG03486.hp2
NA18522.hp1
intron_variant MODIFIER c.294+38061A>G
c.294+38061A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156546763
chr5:156546797 C
C
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+38095C>G
c.294+38095C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156546797
chr5:156546797 C
C
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+38095C>T
c.294+38095C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156546797
chr5:156546907 C
C
T
T
1 a0001c0002t0028g0034
a0001c0002t0028g0034
1 HG02717.hp1
HG02717.hp1
intron_variant MODIFIER c.294+38205C>T
c.294+38205C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156546907
chr5:156547319 C
C
A
A
1 a0001c0001t0003g0018
a0001c0001t0003g0018
1 HG03490.hp1
HG03490.hp1
intron_variant MODIFIER c.294+38617C>A
c.294+38617C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156547319
chr5:156547371 A
A
G
G
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+38669A>G
c.294+38669A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156547371
chr5:156547441 C
C
CT
CT
55 a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
others(52): Show 
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
55 HG00558.hp2
HG00639.hp2
HG01109.hp1
others(52): Show 
HG00558.hp2
HG00639.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01891.hp1
HG01981.hp1
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.294+38753dupT
c.294+38753dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156547441
chr5:156547441 C
C
CTT
CTT
27 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0143
others(24): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
27 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(24): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA20129.hp2
intron_variant MODIFIER c.294+38752_294+3875
others(6): Show 
c.294+38752_294+38753dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156547441
chr5:156547463 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.294+38761G>A
c.294+38761G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156547463
chr5:156547477 C
C
T
T
16 a0001c0001t0001g0025
a0001c0001t0003g0119
a0001c0001t0005g0047
others(13): Show 
a0001c0001t0001g0025
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0056g0096
16 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(13): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03704.hp1
NA20129.hp2
intron_variant MODIFIER c.294+38775C>T
c.294+38775C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156547477
chr5:156547516 C
C
T
T
5 a0001c0001t0001g0008
a0001c0002t0002g0061
a0001c0002t0023g0112
others(2): Show 
a0001c0001t0001g0008
a0001c0002t0002g0061
a0001c0002t0023g0112
a0001c0004t0001g0009
a0001c0004t0017g0007
5 HG02630.hp2
HG02922.hp1
HG03098.hp1
others(2): Show 
HG02630.hp2
HG02922.hp1
HG03098.hp1
HG03486.hp2
NA18522.hp1
intron_variant MODIFIER c.294+38814C>T
c.294+38814C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156547516
chr5:156547563 C
C
T
T
3 a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02723.hp2
NA18906.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.294+38861C>T
c.294+38861C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156547563
chr5:156547593 T
T
C
C
89 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(86): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
89 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(86): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+38891T>C
c.294+38891T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156547593
chr5:156548254 G
G
T
T
67 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(64): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
67 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(64): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.294+39552G>T
c.294+39552G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156548254
chr5:156548267 G
G
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.294+39565G>A
c.294+39565G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156548267
chr5:156548509 A
A
G
G
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.294+39807A>G
c.294+39807A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156548509
chr5:156548620 A
A
AT
AT
21 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0003g0119
others(18): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0003g0119
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
21 HG00558.hp2
HG01070.hp1
HG01071.hp1
others(18): Show 
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02735.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.294+39928dupT
c.294+39928dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156548620
chr5:156548843 G
G
A
A
1 a0001c0002t0015g0081
a0001c0002t0015g0081
1 NA19003.hp2
NA19003.hp2
intron_variant MODIFIER c.294+40141G>A
c.294+40141G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156548843
chr5:156549148 A
A
ATTTTTTT
others(228): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC
GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA
GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG
CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT
AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG
1 a0001c0001t0016g0144
a0001c0001t0016g0144
1 HG01243.hp1
HG01243.hp1
intron_variant MODIFIER c.295-40080_295-4007
others(239): Show 
c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC
GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC
TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC
GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG
GGATGGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156549148
chr5:156549148 A
A
ATTTTTTT
others(229): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT
CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA
AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA
GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT
TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG
1 a0001c0002t0013g0030
a0001c0002t0013g0030
1 HG02970.hp2
HG02970.hp2
intron_variant MODIFIER c.295-40080_295-4007
others(240): Show 
c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG
CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC
CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC
CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC
GGGATGGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156549148
chr5:156549148 A
A
ATTTTTTT
others(231): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT
CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG
CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG
TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT
TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG
1 a0001c0002t0013g0032
a0001c0002t0013g0032
1 HG03130.hp1
HG03130.hp1
intron_variant MODIFIER c.295-40080_295-4007
others(242): Show 
c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT
GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC
TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG
CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG
CCGGGATGGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156549148
chr5:156549148 A
A
ATTTTTTT
others(233): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA
GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC
TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA
AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA
TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG
2 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0012g0059
a0001c0001t0012g0060
2 HG02895.hp2
HG02897.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.295-40080_295-4007
others(244): Show 
c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA
GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT
TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA
CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT
AGCCGGGATGGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156549148
chr5:156549148 A
A
ATTTTTTT
others(235): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG
GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC
ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC
CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG
TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.295-40080_295-4007
others(246): Show 
c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG
CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC
ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC
TACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT
TTAGCCGGGATGGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156549148
chr5:156549148 A
A
ATTTTTTT
others(236): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC
GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT
CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC
CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT
GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG
1 a0001c0001t0041g0028
a0001c0001t0041g0028
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.295-40080_295-4007
others(247): Show 
c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT
GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC
CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA
CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT
TTTAGCCGGGATGGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156549148
chr5:156549148 A
A
ATTTTTTT
others(245): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG
ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC
CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC
TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA
TGG
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.295-40080_295-4007
others(256): Show 
c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA
GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG
GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG
CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG
TTTCACCGTTTTAGCCGGGATGGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156549148
chr5:156549148 A
A
ATTTTTTT
others(245): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG
ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC
CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC
TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA
TGG
1 a0001c0001t0018g0039
a0001c0001t0018g0039
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.295-40080_295-4007
others(256): Show 
c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCA
GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG
GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG
CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG
TTTCACCGTTTTAGCCGGGATGGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156549148
chr5:156549148 A
A
ATTTTTTT
others(251): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT
GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC
TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG
CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG
CCGGGATGG
1 a0001c0001t0013g0057
a0001c0001t0013g0057
1 HG03225.hp1
HG03225.hp1
intron_variant MODIFIER c.295-40080_295-4007
others(262): Show 
c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT
CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC
CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC
TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG
ACGGGGTTTCACCGTTTTAGCCGGGATGGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156549148
chr5:156549148 A
A
ATTTTTTT
others(255): Show 
ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG
CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC
ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC
TACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT
TTAGCCGGGATGG
2 a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0019g0031
a0001c0002t0019g0033
2 HG03041.hp1
NA19240.hp1
HG03041.hp1
NA19240.hp1
intron_variant MODIFIER c.295-40080_295-4007
others(266): Show 
c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT
CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT
CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG
GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT
AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156549148
chr5:156549399 G
G
T
T
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
7 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(4): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.295-39832G>T
c.295-39832G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156549399
chr5:156549467 T
T
G
G
4 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0022g0064
others(1): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0042g0065
4 HG02809.hp1
HG02922.hp2
HG02970.hp1
others(1): Show 
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.295-39764T>G
c.295-39764T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156549467
chr5:156549615 C
C
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-39616C>A
c.295-39616C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156549615
chr5:156549765 C
C
T
T
2 a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0012g0010
a0001c0001t0020g0017
2 HG01981.hp1
HG02622.hp1
HG01981.hp1
HG02622.hp1
intron_variant MODIFIER c.295-39466C>T
c.295-39466C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156549765
chr5:156549787 T
T
C
C
77 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(74): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
77 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(74): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-39444T>C
c.295-39444T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156549787
chr5:156550344 T
T
C
C
1 a0001c0001t0003g0013
a0001c0001t0003g0013
1 NA20805.hp1
NA20805.hp1
intron_variant MODIFIER c.295-38887T>C
c.295-38887T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156550344
chr5:156550398 C
C
T
T
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-38833C>T
c.295-38833C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156550398
chr5:156550499 C
C
T
T
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.295-38732C>T
c.295-38732C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156550499
chr5:156550757 T
T
C
C
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-38474T>C
c.295-38474T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156550757
chr5:156550917 G
G
A
A
1 a0001c0001t0003g0018
a0001c0001t0003g0018
1 HG03490.hp1
HG03490.hp1
intron_variant MODIFIER c.295-38314G>A
c.295-38314G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156550917
chr5:156550967 G
G
A
A
13 a0001c0001t0001g0068
a0001c0001t0009g0036
a0001c0001t0012g0059
others(10): Show 
a0001c0001t0001g0068
a0001c0001t0009g0036
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
13 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(10): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-38264G>A
c.295-38264G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156550967
chr5:156551492 C
C
A
A
19 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-37739C>A
c.295-37739C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156551492
chr5:156551538 T
T
C
C
1 a0001c0002t0023g0112
a0001c0002t0023g0112
1 HG03098.hp1
HG03098.hp1
intron_variant MODIFIER c.295-37693T>C
c.295-37693T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156551538
chr5:156551581 C
C
T
T
76 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(73): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
76 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(73): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-37650C>T
c.295-37650C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156551581
chr5:156552055 A
A
G
G
4 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(1): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0108
4 HG02257.hp2
HG02698.hp2
NA18990.hp2
others(1): Show 
HG02257.hp2
HG02698.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-37176A>G
c.295-37176A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156552055
chr5:156552174 C
C
T
T
37 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
37 HG00558.hp2
HG01081.hp2
HG01109.hp1
others(34): Show 
HG00558.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-37057C>T
c.295-37057C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156552174
chr5:156552464 A
A
G
G
9 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
9 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(6): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-36767A>G
c.295-36767A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156552464
chr5:156552849 C
C
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-36382C>T
c.295-36382C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156552849
chr5:156552852 G
G
T
T
2 a0001c0001t0021g0046
a0001c0002t0024g0100
a0001c0001t0021g0046
a0001c0002t0024g0100
2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
intron_variant MODIFIER c.295-36379G>T
c.295-36379G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156552852
chr5:156553051 G
G
A
A
8 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(5): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
8 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(5): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-36180G>A
c.295-36180G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553051
chr5:156553057 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-36174G>A
c.295-36174G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553057
chr5:156553141 C
C
T
T
9 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
9 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(6): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-36090C>T
c.295-36090C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553141
chr5:156553178 C
C
T
T
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-36053C>T
c.295-36053C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553178
chr5:156553354 C
C
A
A
57 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(54): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0056g0096
a0001c0002t0057g0110
57 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(54): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-35877C>A
c.295-35877C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553354
chr5:156553394 T
T
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-35837T>C
c.295-35837T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553394
chr5:156553408 C
C
T
T
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.295-35823C>T
c.295-35823C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553408
chr5:156553634 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-35597A>G
c.295-35597A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553634
chr5:156553720 C
C
A
A
11 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0133
others(8): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0051g0099
11 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(8): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02129.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.295-35511C>A
c.295-35511C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553720
chr5:156553938 T
T
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-35293T>C
c.295-35293T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553938
chr5:156553969 T
T
C
C
8 a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0009g0049
others(5): Show 
a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0002t0002g0061
a0001c0002t0023g0112
a0001c0004t0001g0009
a0001c0004t0017g0007
8 HG02630.hp2
HG02723.hp1
HG02922.hp1
others(5): Show 
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
HG03486.hp2
NA18522.hp1
intron_variant MODIFIER c.295-35262T>C
c.295-35262T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553969
chr5:156553976 G
G
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-35255G>A
c.295-35255G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553976
chr5:156553977 T
T
TC
TC
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-35249dupC
c.295-35249dupC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156553977
chr5:156553999 C
C
G
G
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.295-35232C>G
c.295-35232C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156553999
chr5:156554312 G
G
C
C
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-34919G>C
c.295-34919G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156554312
chr5:156554354 C
C
CA
CA
9 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0037g0042
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
9 HG02055.hp1
HG02257.hp2
HG02698.hp2
others(6): Show 
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19043.hp2
intron_variant MODIFIER c.295-34862dupA
c.295-34862dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156554354
chr5:156554528 ATG
ATG
A
A
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-34693_295-3469
others(6): Show 
c.295-34693_295-34692delGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156554528
chr5:156554602 C
C
G
G
1 a0001c0001t0001g0052
a0001c0001t0001g0052
1 HG02257.hp2
HG02257.hp2
intron_variant MODIFIER c.295-34629C>G
c.295-34629C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156554602
chr5:156554646 A
A
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-34585A>T
c.295-34585A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156554646
chr5:156554665 C
C
A
A
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.295-34566C>A
c.295-34566C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156554665
chr5:156554718 T
T
C
C
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-34513T>C
c.295-34513T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156554718
chr5:156554864 G
G
A
A
37 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
others(34): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
37 HG00558.hp2
HG01081.hp2
HG01109.hp1
others(34): Show 
HG00558.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-34367G>A
c.295-34367G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156554864
chr5:156554877 T
T
C
C
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-34354T>C
c.295-34354T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156554877
chr5:156555095 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-34136A>G
c.295-34136A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156555095
chr5:156555215 T
T
G
G
24 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(21): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
24 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(21): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.295-34016T>G
c.295-34016T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156555215
chr5:156555273 C
C
T
T
15 a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0009g0036
others(12): Show 
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0009g0036
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
15 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(12): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.295-33958C>T
c.295-33958C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156555273
chr5:156555331 T
T
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-33900T>C
c.295-33900T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156555331
chr5:156555418 G
G
A
A
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.295-33813G>A
c.295-33813G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156555418
chr5:156555449 C
C
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-33782C>T
c.295-33782C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156555449
chr5:156555541 C
C
T
T
87 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(84): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
87 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(84): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-33690C>T
c.295-33690C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156555541
chr5:156555671 CT
CT
C
C
19 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-33548delT
c.295-33548delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156555671
chr5:156555776 A
A
G
G
87 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(84): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
87 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(84): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-33455A>G
c.295-33455A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156555776
chr5:156555779 G
G
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-33452G>T
c.295-33452G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156555779
chr5:156556120 G
G
GA
GA
23 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(20): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
23 HG00639.hp1
HG01258.hp2
HG01261.hp1
others(20): Show 
HG00639.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.295-33096dupA
c.295-33096dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156556120
chr5:156556120 G
G
GAA
GAA
14 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
others(11): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0009g0067
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
14 HG00639.hp2
HG01070.hp1
HG01071.hp1
others(11): Show 
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03130.hp2
HG03139.hp1
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA20129.hp2
intron_variant MODIFIER c.295-33097_295-3309
others(6): Show 
c.295-33097_295-33096dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156556120
chr5:156556120 G
G
GAAA
GAAA
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-33098_295-3309
others(7): Show 
c.295-33098_295-33096dupAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156556120
chr5:156556120 GA
GA
G
G
38 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
others(35): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
38 HG00558.hp2
HG01081.hp2
HG01109.hp1
others(35): Show 
HG00558.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-33096delA
c.295-33096delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156556120
chr5:156556131 A
A
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-33100A>C
c.295-33100A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156556131
chr5:156557321 T
T
G
G
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-31910T>G
c.295-31910T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156557321
chr5:156557551 C
C
A
A
9 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
9 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(6): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-31680C>A
c.295-31680C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156557551
chr5:156557584 A
A
G
G
5 a0001c0001t0009g0067
a0001c0001t0048g0053
a0001c0001t0049g0149
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
5 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(2): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
NA18906.hp2
intron_variant MODIFIER c.295-31647A>G
c.295-31647A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156557584
chr5:156558023 G
G
A
A
63 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(60): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
63 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(60): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-31208G>A
c.295-31208G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156558023
chr5:156558088 A
A
AAT
AAT
7 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0002t0002g0062
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0011g0090
a0001c0002t0015g0081
7 HG00558.hp1
HG02129.hp1
HG02615.hp2
others(4): Show 
HG00558.hp1
HG02129.hp1
HG02615.hp2
HG02717.hp2
NA18985.hp1
NA19003.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.295-31108_295-3110
others(6): Show 
c.295-31108_295-31107dupAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATAT
AATAT
3 a0001c0001t0006g0037
a0001c0001t0029g0024
a0001c0002t0004g0088
a0001c0001t0006g0037
a0001c0001t0029g0024
a0001c0002t0004g0088
3 HG00639.hp1
HG02258.hp2
HG03098.hp2
HG00639.hp1
HG02258.hp2
HG03098.hp2
intron_variant MODIFIER c.295-31110_295-3110
others(8): Show 
c.295-31110_295-31107dupATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATATAT
AATATAT
2 a0001c0001t0009g0036
a0001c0001t0042g0065
a0001c0001t0009g0036
a0001c0001t0042g0065
2 HG02895.hp1
HG02922.hp2
HG02895.hp1
HG02922.hp2
intron_variant MODIFIER c.295-31112_295-3110
others(10): Show 
c.295-31112_295-31107dupATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATATATA
others(1): Show 
AATATATAT
4 a0001c0001t0005g0047
a0001c0001t0006g0038
a0001c0001t0006g0066
others(1): Show 
a0001c0001t0005g0047
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0022g0064
4 HG01258.hp2
HG02809.hp1
HG02970.hp1
others(1): Show 
HG01258.hp2
HG02809.hp1
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.295-31114_295-3110
others(12): Show 
c.295-31114_295-31107dupATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATATATA
others(3): Show 
AATATATATAT
4 a0001c0001t0001g0025
a0001c0001t0009g0142
a0001c0002t0008g0115
others(1): Show 
a0001c0001t0001g0025
a0001c0001t0009g0142
a0001c0002t0008g0115
a0001c0006t0018g0145
4 HG01516.hp1
HG02257.hp1
HG03139.hp1
others(1): Show 
HG01516.hp1
HG02257.hp1
HG03139.hp1
NA19043.hp1
intron_variant MODIFIER c.295-31116_295-3110
others(14): Show 
c.295-31116_295-31107dupATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATATATA
others(5): Show 
AATATATATATAT
7 a0001c0001t0001g0058
a0001c0001t0014g0132
a0001c0001t0016g0120
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0002t0004g0114
a0001c0002t0015g0086
a0001c0002t0028g0034
7 HG01070.hp1
HG01071.hp1
HG01261.hp1
others(4): Show 
HG01070.hp1
HG01071.hp1
HG01261.hp1
HG02083.hp1
HG02559.hp2
HG02717.hp1
HG02809.hp2
intron_variant MODIFIER c.295-31118_295-3110
others(16): Show 
c.295-31118_295-31107dupATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATATATA
others(7): Show 
AATATATATATATAT
3 a0001c0001t0001g0143
a0001c0001t0048g0053
a0001c0002t0004g0104
a0001c0001t0001g0143
a0001c0001t0048g0053
a0001c0002t0004g0104
3 HG00639.hp2
HG02056.hp2
HG03579.hp1
HG00639.hp2
HG02056.hp2
HG03579.hp1
intron_variant MODIFIER c.295-31120_295-3110
others(18): Show 
c.295-31120_295-31107dupATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATATATA
others(9): Show 
AATATATATATATATAT
6 a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0006g0040
others(3): Show 
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0006g0040
a0001c0001t0021g0027
a0001c0001t0037g0042
a0001c0002t0002g0095
6 HG02145.hp1
HG02735.hp2
HG02965.hp2
others(3): Show 
HG02145.hp1
HG02735.hp2
HG02965.hp2
HG03239.hp1
HG03471.hp1
NA19043.hp2
intron_variant MODIFIER c.295-31122_295-3110
others(20): Show 
c.295-31122_295-31107dupATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATATATA
others(13): Show 
AATATATATATATATATATAT
2 a0001c0001t0027g0011
a0001c0002t0056g0096
a0001c0001t0027g0011
a0001c0002t0056g0096
2 HG03704.hp1
NA19030.hp1
HG03704.hp1
NA19030.hp1
intron_variant MODIFIER c.295-31126_295-3110
others(24): Show 
c.295-31126_295-31107dupATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATATATA
others(17): Show 
AATATATATATATATATATATATAT
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.295-31130_295-3110
others(28): Show 
c.295-31130_295-31107dupATATATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATGTATA
others(1): Show 
AATGTATAT
4 a0001c0001t0013g0057
a0001c0002t0013g0030
a0001c0002t0019g0031
others(1): Show 
a0001c0001t0013g0057
a0001c0002t0013g0030
a0001c0002t0019g0031
a0001c0002t0019g0033
4 HG02970.hp2
HG03041.hp1
HG03225.hp1
others(1): Show 
HG02970.hp2
HG03041.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.295-31141_295-3114
others(12): Show 
c.295-31141_295-31140insGTATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATGTATA
others(3): Show 
AATGTATATAT
1 a0001c0001t0016g0144
a0001c0001t0016g0144
1 HG01243.hp1
HG01243.hp1
intron_variant MODIFIER c.295-31141_295-3114
others(14): Show 
c.295-31141_295-31140insGTATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATGTATA
others(5): Show 
AATGTATATATAT
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.295-31141_295-3114
others(16): Show 
c.295-31141_295-31140insGTATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATGTATA
others(7): Show 
AATGTATATATATAT
1 a0001c0001t0041g0028
a0001c0001t0041g0028
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.295-31141_295-3114
others(18): Show 
c.295-31141_295-31140insGTATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATGTATA
others(9): Show 
AATGTATATATATATAT
2 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0012g0059
a0001c0001t0012g0060
2 HG02895.hp2
HG02897.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.295-31141_295-3114
others(20): Show 
c.295-31141_295-31140insGTATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 A
A
AATGTATA
others(13): Show 
AATGTATATATATATATATAT
2 a0001c0001t0018g0039
a0001c0002t0013g0032
a0001c0001t0018g0039
a0001c0002t0013g0032
2 HG03130.hp1
NA19030.hp2
HG03130.hp1
NA19030.hp2
intron_variant MODIFIER c.295-31141_295-3114
others(24): Show 
c.295-31141_295-31140insGTATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 AAT
AAT
A
A
14 a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0046
others(11): Show 
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0002t0002g0075
a0001c0002t0002g0087
a0001c0002t0004g0079
a0001c0002t0015g0078
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0054g0073
a0001c0002t0057g0110
a0001c0002t0061g0103
a0002c0003t0003g0140
14 HG01256.hp1
HG01258.hp1
HG01981.hp1
others(11): Show 
HG01256.hp1
HG01258.hp1
HG01981.hp1
HG02055.hp1
HG02155.hp1
HG02559.hp1
HG02622.hp1
HG03225.hp2
NA18906.hp2
NA18990.hp1
NA19009.hp2
NA19011.hp1
NA19057.hp1
NA20300.hp1
intron_variant MODIFIER c.295-31108_295-3110
others(6): Show 
c.295-31108_295-31107delAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 AATAT
AATAT
A
A
13 a0001c0001t0001g0019
a0001c0001t0001g0052
a0001c0001t0001g0054
others(10): Show 
a0001c0001t0001g0019
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0009g0067
a0001c0001t0014g0048
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0102
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0059g0002
13 HG01081.hp1
HG01243.hp2
HG01261.hp2
others(10): Show 
HG01081.hp1
HG01243.hp2
HG01261.hp2
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG03130.hp2
HG04115.hp1
NA18959.hp1
NA19090.hp2
intron_variant MODIFIER c.295-31110_295-3110
others(8): Show 
c.295-31110_295-31107delATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 AATATAT
AATATAT
A
A
23 a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0003g0013
others(20): Show 
a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0009g0049
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0008g0006
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0004t0001g0009
a0001c0004t0017g0007
a0003c0005t0001g0148
a0004c0007t0020g0012
23 HG01109.hp1
HG01169.hp2
HG01516.hp2
others(20): Show 
HG01109.hp1
HG01169.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp2
HG03471.hp2
HG03486.hp2
HG03704.hp2
NA18522.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19066.hp2
NA20129.hp1
NA20805.hp1
intron_variant MODIFIER c.295-31112_295-3110
others(10): Show 
c.295-31112_295-31107delATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 AATATATA
others(1): Show 
AATATATAT
A
A
9 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0018
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0018
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0002t0005g0082
a0001c0002t0005g0097
9 HG01081.hp2
HG01256.hp2
HG01978.hp1
others(6): Show 
HG01081.hp2
HG01256.hp2
HG01978.hp1
HG02056.hp1
HG02129.hp2
HG03239.hp2
HG03490.hp1
HG03490.hp2
NA20805.hp2
intron_variant MODIFIER c.295-31114_295-3110
others(12): Show 
c.295-31114_295-31107delATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 AATATATA
others(3): Show 
AATATATATAT
A
A
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.295-31116_295-3110
others(14): Show 
c.295-31116_295-31107delATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 AATATATA
others(5): Show 
AATATATATATAT
A
A
1 a0001c0002t0023g0071
a0001c0002t0023g0071
1 HG01981.hp2
HG01981.hp2
intron_variant MODIFIER c.295-31118_295-3110
others(16): Show 
c.295-31118_295-31107delATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 AATATATA
others(7): Show 
AATATATATATATAT
A
A
8 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0069
others(5): Show 
a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0069
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0113
a0001c0002t0011g0051
8 HG01070.hp2
HG01071.hp2
HG01169.hp1
others(5): Show 
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
NA18964.hp1
NA19240.hp2
intron_variant MODIFIER c.295-31120_295-3110
others(18): Show 
c.295-31120_295-31107delATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558088 AATATATA
others(13): Show 
AATATATATATATATATATAT
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-31126_295-3110
others(24): Show 
c.295-31126_295-31107delATATATATATATATATATAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156558088
chr5:156558091 A
A
G
G
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.295-31140A>G
c.295-31140A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156558091
chr5:156558125 T
T
A
A
21 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(18): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0027g0011
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0028g0034
a0001c0002t0056g0096
a0001c0006t0018g0145
21 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(18): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.295-31106T>A
c.295-31106T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156558125
chr5:156558401 G
G
A
A
1 a0001c0001t0003g0018
a0001c0001t0003g0018
1 HG03490.hp1
HG03490.hp1
intron_variant MODIFIER c.295-30830G>A
c.295-30830G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156558401
chr5:156558903 G
G
C
C
20 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(17): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
20 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(17): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-30328G>C
c.295-30328G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156558903
chr5:156558962 C
C
T
T
4 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0069
others(1): Show 
a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0069
a0001c0002t0004g0113
4 HG01070.hp2
HG01071.hp2
HG01169.hp1
others(1): Show 
HG01070.hp2
HG01071.hp2
HG01169.hp1
NA19240.hp2
intron_variant MODIFIER c.295-30269C>T
c.295-30269C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156558962
chr5:156559014 C
C
CTAATAGA
others(1): Show 
CTAATAGAA
63 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(60): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
63 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(60): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-30214_295-3021
others(12): Show 
c.295-30214_295-30213insTAGAATAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156559014
chr5:156559054 C
C
T
T
3 a0001c0002t0002g0077
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0002g0077
a0001c0002t0008g0076
a0001c0002t0011g0090
3 NA18966.hp2
NA19010.hp1
homoSapiens_chm13v2.hp1
NA18966.hp2
NA19010.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.295-30177C>T
c.295-30177C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156559054
chr5:156559065 C
C
G
G
63 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(60): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
63 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(60): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-30166C>G
c.295-30166C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156559065
chr5:156559313 G
G
T
T
9 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
9 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(6): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-29918G>T
c.295-29918G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156559313
chr5:156559356 G
G
A
A
38 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
others(35): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
38 HG00558.hp2
HG01081.hp2
HG01109.hp1
others(35): Show 
HG00558.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-29875G>A
c.295-29875G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156559356
chr5:156559676 G
G
C
C
9 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.295-29555G>C
c.295-29555G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156559676
chr5:156559951 T
T
C
C
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.295-29280T>C
c.295-29280T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156559951
chr5:156559992 C
C
G
G
38 a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
others(35): Show 
a0001c0001t0001g0015
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
38 HG00558.hp2
HG01081.hp2
HG01109.hp1
others(35): Show 
HG00558.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-29239C>G
c.295-29239C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156559992
chr5:156559993 T
T
A
A
105 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(102): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
105 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(102): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-29238T>A
c.295-29238T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156559993
chr5:156560054 C
C
T
T
1 a0001c0002t0002g0093
a0001c0002t0002g0093
1 NA18953.hp2
NA18953.hp2
intron_variant MODIFIER c.295-29177C>T
c.295-29177C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156560054
chr5:156560313 C
C
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-28918C>A
c.295-28918C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156560313
chr5:156560480 T
T
C
C
13 a0001c0001t0001g0068
a0001c0001t0009g0036
a0001c0001t0012g0059
others(10): Show 
a0001c0001t0001g0068
a0001c0001t0009g0036
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
13 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(10): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-28751T>C
c.295-28751T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156560480
chr5:156560500 A
A
C
C
1 a0001c0002t0059g0002
a0001c0002t0059g0002
1 NA18959.hp1
NA18959.hp1
intron_variant MODIFIER c.295-28731A>C
c.295-28731A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156560500
chr5:156560513 G
G
A
A
63 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(60): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
63 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(60): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-28718G>A
c.295-28718G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156560513
chr5:156560525 A
A
G
G
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.295-28706A>G
c.295-28706A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156560525
chr5:156560611 C
C
T
T
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-28620C>T
c.295-28620C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156560611
chr5:156560612 G
G
A
A
15 a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0009g0036
others(12): Show 
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0009g0036
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
15 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(12): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.295-28619G>A
c.295-28619G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156560612
chr5:156560771 G
G
A
A
1 a0001c0001t0001g0045
a0001c0001t0001g0045
1 NA19002.hp2
NA19002.hp2
intron_variant MODIFIER c.295-28460G>A
c.295-28460G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156560771
chr5:156560781 T
T
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-28450T>A
c.295-28450T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156560781
chr5:156560834 G
G
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-28397G>A
c.295-28397G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156560834
chr5:156560888 G
G
A
A
86 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(83): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
86 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(83): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-28343G>A
c.295-28343G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156560888
chr5:156561061 CACAGAT
CACAGAT
C
C
9 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
9 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(6): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-28166_295-2816
others(10): Show 
c.295-28166_295-28161delGATACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156561061
chr5:156561107 T
T
C
C
1 a0001c0002t0053g0085
a0001c0002t0053g0085
1 HG03453.hp1
HG03453.hp1
intron_variant MODIFIER c.295-28124T>C
c.295-28124T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156561107
chr5:156561117 C
C
T
T
54 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(51): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
54 HG00558.hp2
HG01081.hp2
HG01109.hp1
others(51): Show 
HG00558.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-28114C>T
c.295-28114C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156561117
chr5:156561218 C
C
T
T
24 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(21): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
24 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(21): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.295-28013C>T
c.295-28013C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156561218
chr5:156561294 C
C
A
A
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-27937C>A
c.295-27937C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156561294
chr5:156561547 T
T
A
A
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.295-27684T>A
c.295-27684T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156561547
chr5:156561584 C
C
T
T
1 a0001c0001t0009g0049
a0001c0001t0009g0049
1 HG03139.hp2
HG03139.hp2
intron_variant MODIFIER c.295-27647C>T
c.295-27647C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156561584
chr5:156561660 G
G
A
A
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.295-27571G>A
c.295-27571G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156561660
chr5:156561747 G
G
GT
GT
9 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.295-27476dupT
c.295-27476dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156561747
chr5:156561837 C
C
G
G
9 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
9 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(6): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-27394C>G
c.295-27394C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156561837
chr5:156561862 C
C
G
G
1 a0001c0002t0015g0078
a0001c0002t0015g0078
1 HG02155.hp1
HG02155.hp1
intron_variant MODIFIER c.295-27369C>G
c.295-27369C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156561862
chr5:156561936 G
G
A
A
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.295-27295G>A
c.295-27295G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156561936
chr5:156561984 T
T
G
G
1 a0001c0001t0005g0130
a0001c0001t0005g0130
1 NA19057.hp2
NA19057.hp2
intron_variant MODIFIER c.295-27247T>G
c.295-27247T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156561984
chr5:156562054 T
T
C
C
24 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(21): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
24 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(21): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.295-27177T>C
c.295-27177T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562054
chr5:156562107 A
A
G
G
1 a0001c0001t0001g0045
a0001c0001t0001g0045
1 NA19002.hp2
NA19002.hp2
intron_variant MODIFIER c.295-27124A>G
c.295-27124A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562107
chr5:156562155 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-27076G>A
c.295-27076G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562155
chr5:156562269 G
G
T
T
3 a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0107
3 HG00558.hp1
HG02129.hp1
NA18985.hp1
HG00558.hp1
HG02129.hp1
NA18985.hp1
intron_variant MODIFIER c.295-26962G>T
c.295-26962G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562269
chr5:156562371 A
A
G
G
2 a0001c0001t0021g0027
a0001c0001t0037g0042
a0001c0001t0021g0027
a0001c0001t0037g0042
2 HG02965.hp2
NA19043.hp2
HG02965.hp2
NA19043.hp2
intron_variant MODIFIER c.295-26860A>G
c.295-26860A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562371
chr5:156562488 G
G
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-26743G>A
c.295-26743G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562488
chr5:156562580 G
G
A
A
13 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
others(10): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0056g0096
13 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(10): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.295-26651G>A
c.295-26651G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562580
chr5:156562656 T
T
G
G
32 a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
others(29): Show 
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
32 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(29): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.295-26575T>G
c.295-26575T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562656
chr5:156562713 C
C
T
T
19 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-26518C>T
c.295-26518C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562713
chr5:156562714 A
A
G
G
89 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(86): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
89 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(86): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-26517A>G
c.295-26517A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562714
chr5:156562840 T
T
C
C
8 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(5): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
8 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(5): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-26391T>C
c.295-26391T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562840
chr5:156562907 A
A
G
G
15 a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0009g0036
others(12): Show 
a0001c0001t0001g0025
a0001c0001t0001g0068
a0001c0001t0009g0036
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
15 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(12): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.295-26324A>G
c.295-26324A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562907
chr5:156562917 C
C
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-26314C>T
c.295-26314C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156562917
chr5:156563111 C
C
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-26120C>T
c.295-26120C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156563111
chr5:156563137 T
T
A
A
85 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(82): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
85 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(82): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-26094T>A
c.295-26094T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156563137
chr5:156563290 A
A
G
G
2 a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0010g0005
a0001c0002t0024g0063
2 NA18953.hp1
NA19003.hp1
NA18953.hp1
NA19003.hp1
intron_variant MODIFIER c.295-25941A>G
c.295-25941A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156563290
chr5:156563363 T
T
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-25868T>A
c.295-25868T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156563363
chr5:156563732 G
G
A
A
8 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(5): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
8 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(5): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-25499G>A
c.295-25499G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156563732
chr5:156563752 GT
GT
G
G
14 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
others(11): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0056g0096
14 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(11): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.295-25474delT
c.295-25474delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156563752
chr5:156563925 G
G
A
A
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.295-25306G>A
c.295-25306G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156563925
chr5:156563995 G
G
A
A
23 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
others(20): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0048g0053
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0050g0072
a0001c0002t0057g0110
23 HG00639.hp2
HG01109.hp2
HG01243.hp1
others(20): Show 
HG00639.hp2
HG01109.hp2
HG01243.hp1
HG02055.hp1
HG02257.hp2
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.295-25236G>A
c.295-25236G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156563995
chr5:156564116 G
G
T
T
38 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
others(35): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0056g0096
a0001c0002t0057g0110
38 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(35): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02257.hp2
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03704.hp1
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.295-25115G>T
c.295-25115G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564116
chr5:156564176 G
G
A
A
14 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
others(11): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0056g0096
14 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(11): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.295-25055G>A
c.295-25055G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564176
chr5:156564202 C
C
A
A
1 a0001c0002t0004g0104
a0001c0002t0004g0104
1 HG02056.hp2
HG02056.hp2
intron_variant MODIFIER c.295-25029C>A
c.295-25029C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564202
chr5:156564216 G
G
A
A
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-25015G>A
c.295-25015G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564216
chr5:156564307 G
G
A
A
3 a0001c0001t0001g0025
a0001c0001t0009g0036
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0009g0036
a0001c0001t0025g0035
3 HG02895.hp1
HG03139.hp1
NA20129.hp2
HG02895.hp1
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.295-24924G>A
c.295-24924G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564307
chr5:156564311 T
T
A
A
3 a0001c0001t0001g0025
a0001c0001t0009g0036
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0009g0036
a0001c0001t0025g0035
3 HG02895.hp1
HG03139.hp1
NA20129.hp2
HG02895.hp1
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.295-24920T>A
c.295-24920T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564311
chr5:156564343 G
G
A
A
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.295-24888G>A
c.295-24888G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564343
chr5:156564374 C
C
T
T
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-24857C>T
c.295-24857C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564374
chr5:156564559 G
G
A
A
44 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(41): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0056g0096
a0001c0002t0057g0110
44 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(41): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03239.hp1
HG03239.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19043.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-24672G>A
c.295-24672G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564559
chr5:156564625 G
G
A
A
65 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(62): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
65 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(62): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-24606G>A
c.295-24606G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564625
chr5:156564627 C
C
G
G
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-24604C>G
c.295-24604C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564627
chr5:156564650 C
C
T
T
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.295-24581C>T
c.295-24581C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564650
chr5:156564697 T
T
C
C
16 a0001c0001t0001g0025
a0001c0001t0003g0119
a0001c0001t0005g0047
others(13): Show 
a0001c0001t0001g0025
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0025g0035
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0056g0096
16 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(13): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG03139.hp1
HG03239.hp1
HG03704.hp1
NA20129.hp2
intron_variant MODIFIER c.295-24534T>C
c.295-24534T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564697
chr5:156564725 T
T
A
A
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.295-24506T>A
c.295-24506T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564725
chr5:156564860 T
T
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-24371T>C
c.295-24371T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156564860
chr5:156565150 T
T
A
A
9 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(6): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0036g0043
a0001c0002t0052g0111
a0001c0006t0018g0145
9 HG02145.hp1
HG02257.hp1
HG02258.hp2
others(6): Show 
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19043.hp1
intron_variant MODIFIER c.295-24081T>A
c.295-24081T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565150
chr5:156565290 G
G
C
C
3 a0001c0001t0001g0150
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0001g0150
a0001c0001t0009g0049
a0001c0001t0014g0048
3 HG02723.hp1
HG03139.hp2
HG03486.hp1
HG02723.hp1
HG03139.hp2
HG03486.hp1
intron_variant MODIFIER c.295-23941G>C
c.295-23941G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565290
chr5:156565344 A
A
G
G
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.295-23887A>G
c.295-23887A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565344
chr5:156565383 C
C
T
T
1 a0001c0002t0004g0088
a0001c0002t0004g0088
1 HG00639.hp1
HG00639.hp1
intron_variant MODIFIER c.295-23848C>T
c.295-23848C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565383
chr5:156565463 T
T
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-23768T>G
c.295-23768T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565463
chr5:156565543 A
A
T
T
2 a0001c0001t0046g0121
a0004c0007t0020g0012
a0001c0001t0046g0121
a0004c0007t0020g0012
2 HG01261.hp2
HG01516.hp2
HG01261.hp2
HG01516.hp2
intron_variant MODIFIER c.295-23688A>T
c.295-23688A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565543
chr5:156565653 C
C
T
T
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-23578C>T
c.295-23578C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565653
chr5:156565683 C
C
G
G
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.295-23548C>G
c.295-23548C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565683
chr5:156565700 C
C
T
T
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-23531C>T
c.295-23531C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565700
chr5:156565705 C
C
A
A
2 a0001c0001t0047g0003
a0001c0002t0044g0026
a0001c0001t0047g0003
a0001c0002t0044g0026
2 HG03471.hp2
NA20129.hp1
HG03471.hp2
NA20129.hp1
intron_variant MODIFIER c.295-23526C>A
c.295-23526C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565705
chr5:156565753 G
G
T
T
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-23478G>T
c.295-23478G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565753
chr5:156565887 T
T
A
A
4 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0069
others(1): Show 
a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0069
a0001c0002t0004g0113
4 HG01070.hp2
HG01071.hp2
HG01169.hp1
others(1): Show 
HG01070.hp2
HG01071.hp2
HG01169.hp1
NA19240.hp2
intron_variant MODIFIER c.295-23344T>A
c.295-23344T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565887
chr5:156565911 G
G
A
A
4 a0001c0001t0009g0067
a0001c0001t0048g0053
a0001c0002t0050g0072
others(1): Show 
a0001c0001t0009g0067
a0001c0001t0048g0053
a0001c0002t0050g0072
a0001c0002t0057g0110
4 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(1): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.295-23320G>A
c.295-23320G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565911
chr5:156565955 C
C
T
T
1 a0001c0002t0056g0096
a0001c0002t0056g0096
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.295-23276C>T
c.295-23276C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156565955
chr5:156566129 A
A
G
G
25 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(22): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0027
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
25 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(22): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02965.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19043.hp1
intron_variant MODIFIER c.295-23102A>G
c.295-23102A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156566129
chr5:156566238 G
G
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-22993G>A
c.295-22993G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156566238
chr5:156566377 A
A
T
T
19 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-22854A>T
c.295-22854A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156566377
chr5:156566489 TCCATCCT
others(23): Show 
TCCATCCTTTACTTGAATGCCCTGTCACCTG
T
T
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.295-22740_295-2271
others(34): Show 
c.295-22740_295-22711delCATCCTTTACTTGAATGCCCTGTCAC
CTGC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156566489
chr5:156566599 T
T
G
G
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-22632T>G
c.295-22632T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156566599
chr5:156566668 A
A
C
C
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.295-22563A>C
c.295-22563A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156566668
chr5:156566743 C
C
G
G
5 a0001c0001t0009g0067
a0001c0001t0048g0053
a0001c0001t0049g0149
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
5 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(2): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
HG03130.hp2
NA18906.hp2
intron_variant MODIFIER c.295-22488C>G
c.295-22488C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156566743
chr5:156566768 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-22463A>G
c.295-22463A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156566768
chr5:156566803 A
A
G
G
1 a0001c0002t0053g0085
a0001c0002t0053g0085
1 HG03453.hp1
HG03453.hp1
intron_variant MODIFIER c.295-22428A>G
c.295-22428A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156566803
chr5:156566819 A
A
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-22412A>T
c.295-22412A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156566819
chr5:156566971 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.295-22260A>G
c.295-22260A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156566971
chr5:156567143 G
G
C
C
12 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(9): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0036g0043
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0052g0111
a0001c0006t0018g0145
12 HG01243.hp2
HG02145.hp1
HG02257.hp1
others(9): Show 
HG01243.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19043.hp1
intron_variant MODIFIER c.295-22088G>C
c.295-22088G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156567143
chr5:156567268 C
C
G
G
12 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(9): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0036g0043
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0052g0111
a0001c0006t0018g0145
12 HG01243.hp2
HG02145.hp1
HG02257.hp1
others(9): Show 
HG01243.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19043.hp1
intron_variant MODIFIER c.295-21963C>G
c.295-21963C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156567268
chr5:156567290 A
A
AATGG
AATGG
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.295-21921_295-2191
others(8): Show 
c.295-21921_295-21918dupGATG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156567290
chr5:156567305 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-21926G>A
c.295-21926G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156567305
chr5:156567311 A
A
C
C
9 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
9 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(6): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-21920A>C
c.295-21920A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156567311
chr5:156567373 G
G
GATAA
GATAA
7 a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
others(4): Show 
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0022g0029
7 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(4): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01978.hp1
HG01981.hp1
HG02622.hp1
NA20300.hp2
intron_variant MODIFIER c.295-21854_295-2185
others(8): Show 
c.295-21854_295-21851dupAATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156567373
chr5:156567377 A
A
AATAAATA
others(1): Show 
AATAAATAG
2 a0001c0001t0034g0118
a0001c0002t0005g0097
a0001c0001t0034g0118
a0001c0002t0005g0097
2 HG01256.hp2
NA20805.hp2
HG01256.hp2
NA20805.hp2
intron_variant MODIFIER c.295-21851_295-2185
others(12): Show 
c.295-21851_295-21850insAATAGATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156567377
chr5:156567377 A
A
AATAAATA
others(5): Show 
AATAAATAGATAG
1 a0001c0001t0006g0038
a0001c0001t0006g0038
1 HG02809.hp1
HG02809.hp1
intron_variant MODIFIER c.295-21851_295-2185
others(16): Show 
c.295-21851_295-21850insAATAGATAGATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156567377
chr5:156567377 A
A
AATAG
AATAG
6 a0001c0001t0001g0068
a0001c0001t0003g0022
a0001c0001t0048g0053
others(3): Show 
a0001c0001t0001g0068
a0001c0001t0003g0022
a0001c0001t0048g0053
a0001c0002t0010g0108
a0001c0002t0015g0081
a0001c0002t0058g0089
6 HG00639.hp2
HG01109.hp2
HG02145.hp2
others(3): Show 
HG00639.hp2
HG01109.hp2
HG02145.hp2
HG02897.hp2
NA19002.hp1
NA19003.hp2
intron_variant MODIFIER c.295-21803_295-2180
others(8): Show 
c.295-21803_295-21800dupAGAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156567377
chr5:156567377 A
A
AATAGATA
others(1): Show 
AATAGATAG
2 a0001c0001t0001g0150
a0001c0002t0002g0080
a0001c0001t0001g0150
a0001c0002t0002g0080
2 HG02040.hp2
HG03486.hp1
HG02040.hp2
HG03486.hp1
intron_variant MODIFIER c.295-21807_295-2180
others(12): Show 
c.295-21807_295-21800dupAGATAGAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156567377
chr5:156567377 AATAG
AATAG
A
A
38 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0058
others(35): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0146
a0001c0001t0005g0129
a0001c0001t0007g0134
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0032g0020
a0001c0001t0039g0004
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0093
a0001c0002t0004g0092
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0052g0111
a0001c0002t0055g0091
a0001c0002t0059g0002
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
38 HG00558.hp1
HG00558.hp2
HG01243.hp1
others(35): Show 
HG00558.hp1
HG00558.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG02056.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp2
HG03486.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp2
NA18990.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19240.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.295-21803_295-2180
others(8): Show 
c.295-21803_295-21800delAGAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156567377
chr5:156567377 AATAGATA
others(1): Show 
AATAGATAG
A
A
26 a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0122
others(23): Show 
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0003g0018
a0001c0001t0003g0056
a0001c0001t0005g0130
a0001c0001t0007g0126
a0001c0001t0007g0138
a0001c0001t0009g0142
a0001c0001t0014g0055
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0002g0098
a0001c0002t0002g0107
a0001c0002t0004g0113
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0094
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0004t0001g0009
a0001c0004t0017g0007
26 HG01070.hp2
HG01071.hp2
HG01169.hp1
others(23): Show 
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG01891.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp2
HG02257.hp2
HG02630.hp2
HG02922.hp1
HG03130.hp2
HG03453.hp1
HG03490.hp1
HG03579.hp1
NA18959.hp2
NA18964.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
intron_variant MODIFIER c.295-21807_295-2180
others(12): Show 
c.295-21807_295-21800delAGATAGAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156567377
chr5:156567381 G
G
A
A
9 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0006g0066
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0042g0065
a0001c0002t0051g0099
9 HG02129.hp2
HG02717.hp2
HG02922.hp2
others(6): Show 
HG02129.hp2
HG02717.hp2
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
intron_variant MODIFIER c.295-21850G>A
c.295-21850G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156567381
chr5:156567420 AGATAGAT
others(5): Show 
AGATAGATAGATG
A
A
5 a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0002t0004g0106
others(2): Show 
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0028g0034
5 HG01261.hp1
HG01891.hp2
HG02717.hp1
others(2): Show 
HG01261.hp1
HG01891.hp2
HG02717.hp1
NA18966.hp1
NA19011.hp2
intron_variant MODIFIER c.295-21809_295-2179
others(16): Show 
c.295-21809_295-21798delATAGATAGATGG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156567420
chr5:156567424 AGATAGAT
others(1): Show 
AGATAGATG
A
A
9 a0001c0001t0003g0119
a0001c0001t0009g0036
a0001c0001t0014g0132
others(6): Show 
a0001c0001t0003g0119
a0001c0001t0009g0036
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0027
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0008g0115
a0001c0002t0056g0096
9 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(6): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01516.hp1
HG02735.hp2
HG02895.hp1
HG02965.hp2
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.295-21805_295-2179
others(12): Show 
c.295-21805_295-21798delATAGATGG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156567424
chr5:156567428 AGATG
AGATG
A
A
2 a0001c0001t0005g0047
a0001c0001t0038g0044
a0001c0001t0005g0047
a0001c0001t0038g0044
2 HG01258.hp2
HG02083.hp1
HG01258.hp2
HG02083.hp1
intron_variant MODIFIER c.295-21801_295-2179
others(8): Show 
c.295-21801_295-21798delATGG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156567428
chr5:156567432 G
G
A
A
1 a0001c0002t0004g0104
a0001c0002t0004g0104
1 HG02056.hp2
HG02056.hp2
intron_variant MODIFIER c.295-21799G>A
c.295-21799G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156567432
chr5:156567523 C
C
T
T
9 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.295-21708C>T
c.295-21708C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156567523
chr5:156567686 A
A
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-21545A>C
c.295-21545A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156567686
chr5:156567753 C
C
A
A
15 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0036
others(12): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0027
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0028g0034
a0001c0002t0056g0096
15 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(12): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02965.hp2
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.295-21478C>A
c.295-21478C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156567753
chr5:156567791 TAATC
TAATC
T
T
4 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(1): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0108
4 HG02257.hp2
HG02698.hp2
NA18990.hp2
others(1): Show 
HG02257.hp2
HG02698.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-21439_295-2143
others(8): Show 
c.295-21439_295-21436delAATC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156567791
chr5:156567840 G
G
A
A
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.295-21391G>A
c.295-21391G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156567840
chr5:156568288 G
G
T
T
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-20943G>T
c.295-20943G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156568288
chr5:156568308 C
C
T
T
14 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
others(11): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0056g0096
14 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(11): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.295-20923C>T
c.295-20923C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156568308
chr5:156568420 C
C
A
A
19 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-20811C>A
c.295-20811C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156568420
chr5:156568433 A
A
G
G
16 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0036
others(13): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0027
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0056g0096
16 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(13): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02965.hp2
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.295-20798A>G
c.295-20798A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156568433
chr5:156568461 C
C
T
T
24 a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
others(21): Show 
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0036g0043
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0052g0111
a0001c0006t0018g0145
24 HG01109.hp2
HG01243.hp1
HG01243.hp2
others(21): Show 
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
intron_variant MODIFIER c.295-20770C>T
c.295-20770C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156568461
chr5:156568482 C
C
T
T
8 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(5): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
8 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(5): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-20749C>T
c.295-20749C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156568482
chr5:156568940 G
G
A
A
2 a0001c0001t0032g0020
a0001c0002t0005g0082
a0001c0001t0032g0020
a0001c0002t0005g0082
2 HG02056.hp1
HG03490.hp2
HG02056.hp1
HG03490.hp2
intron_variant MODIFIER c.295-20291G>A
c.295-20291G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156568940
chr5:156569054 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-20177G>A
c.295-20177G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156569054
chr5:156569095 C
C
CT
CT
17 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0036
others(14): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0027
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0056g0096
17 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(14): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02965.hp2
HG03239.hp1
HG03704.hp1
NA19043.hp2
intron_variant MODIFIER c.295-20134dupT
c.295-20134dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156569095
chr5:156569329 C
C
T
T
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.295-19902C>T
c.295-19902C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156569329
chr5:156569475 C
C
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-19756C>A
c.295-19756C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156569475
chr5:156569527 G
G
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-19704G>A
c.295-19704G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156569527
chr5:156569606 C
C
CAA
CAA
9 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(6): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0036g0043
a0001c0002t0052g0111
a0001c0006t0018g0145
9 HG02145.hp1
HG02257.hp1
HG02258.hp2
others(6): Show 
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19043.hp1
intron_variant MODIFIER c.295-19612_295-1961
others(6): Show 
c.295-19612_295-19611dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156569606
chr5:156569606 CA
CA
C
C
16 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
others(13): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0027g0011
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0056g0096
16 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(13): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
NA19030.hp1
NA19043.hp2
intron_variant MODIFIER c.295-19611delA
c.295-19611delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156569606
chr5:156569726 A
A
G
G
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-19505A>G
c.295-19505A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156569726
chr5:156569744 G
G
A
A
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.295-19487G>A
c.295-19487G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156569744
chr5:156569922 C
C
T
T
13 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
others(10): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0028g0034
a0001c0002t0056g0096
13 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(10): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.295-19309C>T
c.295-19309C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156569922
chr5:156569924 G
G
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-19307G>A
c.295-19307G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156569924
chr5:156569929 A
A
T
T
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.295-19302A>T
c.295-19302A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156569929
chr5:156570004 C
C
A
A
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.295-19227C>A
c.295-19227C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156570004
chr5:156570051 T
T
A
A
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.295-19180T>A
c.295-19180T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156570051
chr5:156570508 C
C
A
A
13 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
others(10): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0028g0034
a0001c0002t0056g0096
13 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(10): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.295-18723C>A
c.295-18723C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156570508
chr5:156570547 T
T
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-18684T>C
c.295-18684T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156570547
chr5:156570590 G
G
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-18641G>A
c.295-18641G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156570590
chr5:156570753 A
A
G
G
1 a0001c0002t0056g0096
a0001c0002t0056g0096
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.295-18478A>G
c.295-18478A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156570753
chr5:156570782 G
G
T
T
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.295-18449G>T
c.295-18449G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156570782
chr5:156571085 C
C
T
T
4 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(1): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0108
4 HG02257.hp2
HG02698.hp2
NA18990.hp2
others(1): Show 
HG02257.hp2
HG02698.hp2
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.295-18146C>T
c.295-18146C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156571085
chr5:156571100 G
G
A
A
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.295-18131G>A
c.295-18131G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156571100
chr5:156571111 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.295-18120A>G
c.295-18120A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156571111
chr5:156571192 T
T
C
C
90 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(87): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
90 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(87): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-18039T>C
c.295-18039T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156571192
chr5:156571289 G
G
T
T
2 a0001c0002t0008g0006
a0001c0002t0010g0094
a0001c0002t0008g0006
a0001c0002t0010g0094
2 HG02040.hp1
NA19010.hp2
HG02040.hp1
NA19010.hp2
intron_variant MODIFIER c.295-17942G>T
c.295-17942G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156571289
chr5:156571796 G
G
A
A
24 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(21): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
24 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(21): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19043.hp1
intron_variant MODIFIER c.295-17435G>A
c.295-17435G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156571796
chr5:156572070 A
A
G
G
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-17161A>G
c.295-17161A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572070
chr5:156572147 A
A
G
G
24 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(21): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0027
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
24 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(21): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19043.hp1
intron_variant MODIFIER c.295-17084A>G
c.295-17084A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572147
chr5:156572160 T
T
G
G
1 a0001c0001t0033g0141
a0001c0001t0033g0141
1 HG03225.hp2
HG03225.hp2
intron_variant MODIFIER c.295-17071T>G
c.295-17071T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572160
chr5:156572202 T
T
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-17029T>C
c.295-17029T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572202
chr5:156572298 C
C
T
T
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.295-16933C>T
c.295-16933C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572298
chr5:156572299 G
G
A
A
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
7 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(4): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.295-16932G>A
c.295-16932G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572299
chr5:156572305 C
C
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-16926C>A
c.295-16926C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572305
chr5:156572355 A
A
G
G
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-16876A>G
c.295-16876A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572355
chr5:156572369 T
T
C
C
1 a0001c0001t0040g0131
a0001c0001t0040g0131
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.295-16862T>C
c.295-16862T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572369
chr5:156572584 T
T
G
G
19 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-16647T>G
c.295-16647T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572584
chr5:156572800 A
A
G
G
10 a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
others(7): Show 
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
10 HG01256.hp1
HG01258.hp1
HG01261.hp2
others(7): Show 
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02056.hp1
HG02735.hp1
HG03490.hp2
NA18959.hp1
intron_variant MODIFIER c.295-16431A>G
c.295-16431A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572800
chr5:156572806 T
T
C
C
24 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(21): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0027
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
24 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(21): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02965.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19043.hp1
intron_variant MODIFIER c.295-16425T>C
c.295-16425T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572806
chr5:156572842 A
A
G
G
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.295-16389A>G
c.295-16389A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572842
chr5:156572962 G
G
T
T
15 a0001c0001t0001g0068
a0001c0001t0001g0147
a0001c0001t0012g0059
others(12): Show 
a0001c0001t0001g0068
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
15 HG01109.hp2
HG01243.hp1
HG01243.hp2
others(12): Show 
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-16269G>T
c.295-16269G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572962
chr5:156572970 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-16261G>A
c.295-16261G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156572970
chr5:156573015 T
T
C
C
2 a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0034g0118
a0001c0001t0035g0127
2 HG01169.hp2
HG01256.hp2
HG01169.hp2
HG01256.hp2
intron_variant MODIFIER c.295-16216T>C
c.295-16216T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156573015
chr5:156573052 A
A
AT
AT
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-16174dupT
c.295-16174dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156573052
chr5:156573104 C
C
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-16127C>A
c.295-16127C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156573104
chr5:156573177 G
G
A
A
4 a0001c0001t0031g0021
a0001c0001t0046g0121
a0001c0002t0059g0002
others(1): Show 
a0001c0001t0031g0021
a0001c0001t0046g0121
a0001c0002t0059g0002
a0004c0007t0020g0012
4 HG01261.hp2
HG01516.hp2
HG01978.hp2
others(1): Show 
HG01261.hp2
HG01516.hp2
HG01978.hp2
NA18959.hp1
intron_variant MODIFIER c.295-16054G>A
c.295-16054G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156573177
chr5:156573250 C
C
T
T
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-15981C>T
c.295-15981C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156573250
chr5:156573523 G
G
A
A
3 a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02723.hp2
NA18906.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.295-15708G>A
c.295-15708G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156573523
chr5:156573676 G
G
A
A
24 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(21): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0027
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0006t0018g0145
24 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(21): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG02965.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp1
NA19043.hp1
intron_variant MODIFIER c.295-15555G>A
c.295-15555G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156573676
chr5:156573714 T
T
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-15517T>A
c.295-15517T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156573714
chr5:156573834 T
T
C
C
18 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
18 HG00558.hp2
HG01891.hp1
HG02083.hp2
others(15): Show 
HG00558.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-15397T>C
c.295-15397T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156573834
chr5:156574035 G
G
A
A
9 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0048g0053
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0057g0110
9 HG00639.hp2
HG02055.hp1
HG02257.hp2
others(6): Show 
HG00639.hp2
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-15196G>A
c.295-15196G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156574035
chr5:156574044 C
C
T
T
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.295-15187C>T
c.295-15187C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156574044
chr5:156574180 T
T
A
A
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-15051T>A
c.295-15051T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156574180
chr5:156574244 G
G
T
T
89 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(86): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
89 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(86): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-14987G>T
c.295-14987G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156574244
chr5:156574426 C
C
T
T
14 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0036
others(11): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0009g0036
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0028g0034
a0001c0002t0056g0096
14 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(11): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG02895.hp1
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.295-14805C>T
c.295-14805C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156574426
chr5:156574466 A
A
G
G
89 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(86): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
89 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(86): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-14765A>G
c.295-14765A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156574466
chr5:156574538 C
C
T
T
13 a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
others(10): Show 
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0008g0115
a0001c0002t0028g0034
a0001c0002t0056g0096
13 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(10): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
intron_variant MODIFIER c.295-14693C>T
c.295-14693C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156574538
chr5:156574558 T
T
C
C
2 a0001c0001t0047g0003
a0001c0002t0044g0026
a0001c0001t0047g0003
a0001c0002t0044g0026
2 HG03471.hp2
NA20129.hp1
HG03471.hp2
NA20129.hp1
intron_variant MODIFIER c.295-14673T>C
c.295-14673T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156574558
chr5:156574635 C
C
T
T
4 a0001c0001t0009g0067
a0001c0001t0048g0053
a0001c0002t0050g0072
others(1): Show 
a0001c0001t0009g0067
a0001c0001t0048g0053
a0001c0002t0050g0072
a0001c0002t0057g0110
4 HG00639.hp2
HG02055.hp1
HG02723.hp2
others(1): Show 
HG00639.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.295-14596C>T
c.295-14596C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156574635
chr5:156574755 T
T
C
C
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.295-14476T>C
c.295-14476T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156574755
chr5:156574787 G
G
A
A
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.295-14444G>A
c.295-14444G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156574787
chr5:156575047 A
A
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-14184A>T
c.295-14184A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156575047
chr5:156575428 G
G
A
A
56 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(53): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
56 HG00639.hp1
HG00639.hp2
HG01070.hp1
others(53): Show 
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-13803G>A
c.295-13803G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156575428
chr5:156575444 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-13787G>A
c.295-13787G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156575444
chr5:156575752 C
C
CA
CA
18 a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
others(15): Show 
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0028g0034
a0001c0002t0056g0096
a0002c0003t0017g0014
18 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(15): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02698.hp1
HG02717.hp1
HG02735.hp2
HG02897.hp2
HG03239.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA20805.hp1
intron_variant MODIFIER c.295-13470dupA
c.295-13470dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156575752
chr5:156575809 G
G
A
A
73 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(70): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0006t0018g0145
73 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(70): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-13422G>A
c.295-13422G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156575809
chr5:156576083 C
C
G
G
1 a0001c0001t0001g0116
a0001c0001t0001g0116
1 HG02055.hp2
HG02055.hp2
intron_variant MODIFIER c.295-13148C>G
c.295-13148C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576083
chr5:156576084 C
C
T
T
9 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(6): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0036g0043
a0001c0002t0052g0111
a0001c0006t0018g0145
9 HG02145.hp1
HG02257.hp1
HG02258.hp2
others(6): Show 
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19043.hp1
intron_variant MODIFIER c.295-13147C>T
c.295-13147C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576084
chr5:156576245 G
G
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-12986G>C
c.295-12986G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576245
chr5:156576324 T
T
C
C
1 a0001c0002t0061g0103
a0001c0002t0061g0103
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.295-12907T>C
c.295-12907T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576324
chr5:156576383 A
A
G
G
1 a0001c0001t0001g0045
a0001c0001t0001g0045
1 NA19002.hp2
NA19002.hp2
intron_variant MODIFIER c.295-12848A>G
c.295-12848A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576383
chr5:156576406 G
G
A
A
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-12825G>A
c.295-12825G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576406
chr5:156576428 C
C
T
T
5 a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0002t0010g0001
others(2): Show 
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
5 HG02698.hp2
HG02965.hp2
NA18990.hp2
others(2): Show 
HG02698.hp2
HG02965.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-12803C>T
c.295-12803C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576428
chr5:156576463 C
C
T
T
32 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(29): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0125
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0006t0018g0145
32 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(29): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-12768C>T
c.295-12768C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576463
chr5:156576539 C
C
T
T
10 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(7): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0057g0110
10 HG02055.hp1
HG02257.hp2
HG02698.hp2
others(7): Show 
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03098.hp1
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-12692C>T
c.295-12692C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576539
chr5:156576553 C
C
T
T
30 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
others(27): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
30 HG01109.hp2
HG01243.hp1
HG01243.hp2
others(27): Show 
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp1
intron_variant MODIFIER c.295-12678C>T
c.295-12678C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576553
chr5:156576572 C
C
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.295-12659C>T
c.295-12659C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576572
chr5:156576586 G
G
A
A
3 a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02723.hp2
NA18906.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.295-12645G>A
c.295-12645G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576586
chr5:156576667 T
T
G
G
93 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
93 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(90): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-12564T>G
c.295-12564T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576667
chr5:156576793 T
T
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-12438T>C
c.295-12438T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576793
chr5:156576881 A
A
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.295-12350A>T
c.295-12350A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576881
chr5:156576887 C
C
G
G
2 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0003g0056
a0001c0001t0014g0055
2 HG01070.hp2
HG01169.hp1
HG01070.hp2
HG01169.hp1
intron_variant MODIFIER c.295-12344C>G
c.295-12344C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576887
chr5:156576895 C
C
T
T
2 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0003g0056
a0001c0001t0014g0055
2 HG01070.hp2
HG01169.hp1
HG01070.hp2
HG01169.hp1
intron_variant MODIFIER c.295-12336C>T
c.295-12336C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576895
chr5:156576896 G
G
A
A
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-12335G>A
c.295-12335G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576896
chr5:156576927 T
T
C
C
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.295-12304T>C
c.295-12304T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576927
chr5:156576931 A
A
G
G
4 a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0036g0043
others(1): Show 
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0036g0043
a0001c0002t0052g0111
4 HG02258.hp2
HG03453.hp2
HG03471.hp1
others(1): Show 
HG02258.hp2
HG03453.hp2
HG03471.hp1
NA18906.hp1
intron_variant MODIFIER c.295-12300A>G
c.295-12300A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156576931
chr5:156577001 T
T
G
G
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-12230T>G
c.295-12230T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156577001
chr5:156577010 C
C
G
G
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-12221C>G
c.295-12221C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156577010
chr5:156577135 C
C
T
T
93 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
93 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(90): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-12096C>T
c.295-12096C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156577135
chr5:156577257 G
G
T
T
4 a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
others(1): Show 
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0023g0071
4 HG01981.hp2
HG02040.hp2
HG02071.hp1
others(1): Show 
HG01981.hp2
HG02040.hp2
HG02071.hp1
NA18964.hp1
intron_variant MODIFIER c.295-11974G>T
c.295-11974G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156577257
chr5:156577370 C
C
G
G
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-11861C>G
c.295-11861C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156577370
chr5:156577658 A
A
G
G
10 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
10 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(7): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.295-11573A>G
c.295-11573A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156577658
chr5:156577919 C
C
T
T
2 a0001c0001t0021g0046
a0001c0002t0024g0100
a0001c0001t0021g0046
a0001c0002t0024g0100
2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
intron_variant MODIFIER c.295-11312C>T
c.295-11312C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156577919
chr5:156578156 C
C
A
A
5 a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
others(2): Show 
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0039g0004
5 HG02698.hp1
HG02897.hp2
HG03704.hp2
others(2): Show 
HG02698.hp1
HG02897.hp2
HG03704.hp2
HG04115.hp1
NA20805.hp1
intron_variant MODIFIER c.295-11075C>A
c.295-11075C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156578156
chr5:156578159 C
C
G
G
10 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(7): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0057g0110
10 HG02055.hp1
HG02257.hp2
HG02698.hp2
others(7): Show 
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03098.hp1
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-11072C>G
c.295-11072C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156578159
chr5:156578176 T
T
C
C
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-11055T>C
c.295-11055T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156578176
chr5:156578242 C
C
G
G
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.295-10989C>G
c.295-10989C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156578242
chr5:156578263 C
C
A
A
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-10968C>A
c.295-10968C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156578263
chr5:156578370 T
T
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-10861T>A
c.295-10861T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156578370
chr5:156578429 C
C
A
A
23 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(20): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
23 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(20): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-10802C>A
c.295-10802C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156578429
chr5:156578468 G
G
A
A
2 a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0012g0010
a0001c0001t0020g0017
2 HG01981.hp1
HG02622.hp1
HG01981.hp1
HG02622.hp1
intron_variant MODIFIER c.295-10763G>A
c.295-10763G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156578468
chr5:156578535 A
A
G
G
1 a0001c0001t0003g0136
a0001c0001t0003g0136
1 HG02698.hp1
HG02698.hp1
intron_variant MODIFIER c.295-10696A>G
c.295-10696A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156578535
chr5:156578556 G
G
T
T
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-10675G>T
c.295-10675G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156578556
chr5:156578790 T
T
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-10441T>C
c.295-10441T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156578790
chr5:156578794 G
G
A
A
12 a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0001g0068
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01109.hp2
HG01243.hp1
HG02615.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-10437G>A
c.295-10437G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156578794
chr5:156578894 GT
GT
G
G
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
7 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(4): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.295-10331delT
c.295-10331delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156578894
chr5:156579025 T
T
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-10206T>C
c.295-10206T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579025
chr5:156579074 T
T
C
C
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-10157T>C
c.295-10157T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579074
chr5:156579076 G
G
A
A
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-10155G>A
c.295-10155G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579076
chr5:156579088 T
T
C
C
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-10143T>C
c.295-10143T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579088
chr5:156579146 T
T
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-10085T>C
c.295-10085T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579146
chr5:156579162 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-10069G>A
c.295-10069G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579162
chr5:156579349 G
G
T
T
14 a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
others(11): Show 
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
14 HG01256.hp1
HG01258.hp1
HG01261.hp2
others(11): Show 
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA20129.hp1
intron_variant MODIFIER c.295-9882G>T
c.295-9882G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579349
chr5:156579419 C
C
G
G
4 a0001c0001t0001g0008
a0001c0002t0002g0061
a0001c0004t0001g0009
others(1): Show 
a0001c0001t0001g0008
a0001c0002t0002g0061
a0001c0004t0001g0009
a0001c0004t0017g0007
4 HG02630.hp2
HG02922.hp1
HG03486.hp2
others(1): Show 
HG02630.hp2
HG02922.hp1
HG03486.hp2
NA18522.hp1
intron_variant MODIFIER c.295-9812C>G
c.295-9812C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579419
chr5:156579420 T
T
C
C
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-9811T>C
c.295-9811T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579420
chr5:156579450 C
C
A
A
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.295-9781C>A
c.295-9781C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579450
chr5:156579519 G
G
C
C
3 a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0006t0018g0145
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0006t0018g0145
3 HG02145.hp1
HG02257.hp1
NA19043.hp1
HG02145.hp1
HG02257.hp1
NA19043.hp1
intron_variant MODIFIER c.295-9712G>C
c.295-9712G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579519
chr5:156579603 G
G
T
T
1 a0001c0001t0007g0124
a0001c0001t0007g0124
1 NA18966.hp1
NA18966.hp1
intron_variant MODIFIER c.295-9628G>T
c.295-9628G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579603
chr5:156579669 A
A
G
G
93 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
93 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(90): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-9562A>G
c.295-9562A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579669
chr5:156579704 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-9527A>G
c.295-9527A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579704
chr5:156579992 C
C
A
A
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.295-9239C>A
c.295-9239C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156579992
chr5:156580014 G
G
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-9217G>A
c.295-9217G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580014
chr5:156580039 C
C
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-9192C>T
c.295-9192C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580039
chr5:156580040 A
A
G
G
32 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
others(29): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
32 HG01109.hp2
HG01243.hp1
HG01243.hp2
others(29): Show 
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp1
intron_variant MODIFIER c.295-9191A>G
c.295-9191A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580040
chr5:156580052 A
A
T
T
93 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
93 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(90): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-9179A>T
c.295-9179A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580052
chr5:156580226 A
A
G
G
84 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(81): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
84 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(81): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-9005A>G
c.295-9005A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580226
chr5:156580237 T
T
G
G
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-8994T>G
c.295-8994T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580237
chr5:156580317 C
C
T
T
1 a0001c0001t0001g0019
a0001c0001t0001g0019
1 HG01081.hp1
HG01081.hp1
intron_variant MODIFIER c.295-8914C>T
c.295-8914C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580317
chr5:156580324 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-8907G>A
c.295-8907G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580324
chr5:156580356 C
C
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.295-8875C>T
c.295-8875C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580356
chr5:156580361 C
C
A
A
23 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(20): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
23 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(20): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-8870C>A
c.295-8870C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580361
chr5:156580386 G
G
A
A
9 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0057g0110
9 HG02055.hp1
HG02257.hp2
HG02698.hp2
others(6): Show 
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03098.hp1
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-8845G>A
c.295-8845G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580386
chr5:156580809 T
T
C
C
32 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(29): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0125
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0006t0018g0145
32 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(29): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-8422T>C
c.295-8422T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580809
chr5:156580854 A
A
G
G
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-8377A>G
c.295-8377A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580854
chr5:156580876 T
T
C
C
1 a0001c0002t0013g0030
a0001c0002t0013g0030
1 HG02970.hp2
HG02970.hp2
intron_variant MODIFIER c.295-8355T>C
c.295-8355T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580876
chr5:156580961 T
T
G
G
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-8270T>G
c.295-8270T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156580961
chr5:156581104 G
G
A
A
1 a0001c0001t0001g0045
a0001c0001t0001g0045
1 NA19002.hp2
NA19002.hp2
intron_variant MODIFIER c.295-8127G>A
c.295-8127G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581104
chr5:156581153 G
G
A
A
63 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(60): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
63 HG01081.hp2
HG01109.hp1
HG01109.hp2
others(60): Show 
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19066.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-8078G>A
c.295-8078G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581153
chr5:156581175 G
G
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-8056G>A
c.295-8056G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581175
chr5:156581295 A
A
G
G
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.295-7936A>G
c.295-7936A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581295
chr5:156581356 A
A
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-7875A>C
c.295-7875A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581356
chr5:156581438 C
C
T
T
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.295-7793C>T
c.295-7793C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581438
chr5:156581457 G
G
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.295-7774G>T
c.295-7774G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581457
chr5:156581510 A
A
G
G
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.295-7721A>G
c.295-7721A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581510
chr5:156581617 C
C
A
A
3 a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02723.hp2
NA18906.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.295-7614C>A
c.295-7614C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581617
chr5:156581712 G
G
A
A
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.295-7519G>A
c.295-7519G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581712
chr5:156581750 G
G
A
A
23 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(20): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
23 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(20): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-7481G>A
c.295-7481G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581750
chr5:156581762 G
G
A
A
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-7469G>A
c.295-7469G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581762
chr5:156581772 T
T
G
G
64 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(61): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
64 HG01081.hp2
HG01109.hp1
HG01109.hp2
others(61): Show 
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-7459T>G
c.295-7459T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156581772
chr5:156582036 C
C
T
T
33 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(30): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0057g0110
33 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(30): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02129.hp2
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03239.hp2
NA18522.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19043.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-7195C>T
c.295-7195C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582036
chr5:156582046 C
C
T
T
1 a0001c0002t0002g0098
a0001c0002t0002g0098
1 NA18964.hp1
NA18964.hp1
intron_variant MODIFIER c.295-7185C>T
c.295-7185C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582046
chr5:156582075 T
T
G
G
30 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
others(27): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
30 HG01109.hp2
HG01243.hp1
HG01243.hp2
others(27): Show 
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp1
intron_variant MODIFIER c.295-7156T>G
c.295-7156T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582075
chr5:156582283 C
C
T
T
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-6948C>T
c.295-6948C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582283
chr5:156582284 G
G
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-6947G>A
c.295-6947G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582284
chr5:156582487 A
A
T
T
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.295-6744A>T
c.295-6744A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582487
chr5:156582710 C
C
A
A
32 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(29): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0057g0110
32 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(29): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02129.hp2
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03239.hp2
NA18522.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-6521C>A
c.295-6521C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582710
chr5:156582741 T
T
A
A
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.295-6490T>A
c.295-6490T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582741
chr5:156582786 C
C
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-6445C>T
c.295-6445C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582786
chr5:156582817 A
A
ACG
ACG
15 a0001c0001t0001g0068
a0001c0001t0001g0147
a0001c0001t0012g0059
others(12): Show 
a0001c0001t0001g0068
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
15 HG01109.hp2
HG01243.hp1
HG01243.hp2
others(12): Show 
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-6410_295-6409d
others(4): Show 
c.295-6410_295-6409dupGC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156582817
chr5:156582821 G
G
A
A
1 a0001c0001t0035g0127
a0001c0001t0035g0127
1 HG01169.hp2
HG01169.hp2
intron_variant MODIFIER c.295-6410G>A
c.295-6410G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582821
chr5:156582821 GCA
GCA
G
G
3 a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02723.hp2
NA18906.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.295-6391_295-6390d
others(4): Show 
c.295-6391_295-6390delCA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156582821
chr5:156582823 A
A
G
G
45 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(42): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
45 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(42): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp2
NA18522.hp2
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19066.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-6408A>G
c.295-6408A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582823
chr5:156582825 A
A
G
G
3 a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02723.hp2
NA18906.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.295-6406A>G
c.295-6406A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582825
chr5:156582894 G
G
T
T
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-6337G>T
c.295-6337G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156582894
chr5:156583290 A
A
G
G
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-5941A>G
c.295-5941A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156583290
chr5:156583300 C
C
T
T
30 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
others(27): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
30 HG01109.hp2
HG01243.hp1
HG01243.hp2
others(27): Show 
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp1
intron_variant MODIFIER c.295-5931C>T
c.295-5931C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156583300
chr5:156583358 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-5873A>G
c.295-5873A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156583358
chr5:156583360 A
A
G
G
2 a0001c0001t0021g0046
a0001c0002t0024g0100
a0001c0001t0021g0046
a0001c0002t0024g0100
2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
intron_variant MODIFIER c.295-5871A>G
c.295-5871A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156583360
chr5:156583527 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.295-5704T>C
c.295-5704T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156583527
chr5:156583571 G
G
T
T
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-5660G>T
c.295-5660G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156583571
chr5:156583647 C
C
T
T
4 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
others(1): Show 
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
4 HG02698.hp2
NA18990.hp2
NA19002.hp1
others(1): Show 
HG02698.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-5584C>T
c.295-5584C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156583647
chr5:156583887 G
G
C
C
2 a0001c0001t0021g0046
a0001c0002t0024g0100
a0001c0001t0021g0046
a0001c0002t0024g0100
2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
intron_variant MODIFIER c.295-5344G>C
c.295-5344G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156583887
chr5:156584242 A
A
G
G
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.295-4989A>G
c.295-4989A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156584242
chr5:156584264 T
T
C
C
10 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(7): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0057g0110
10 HG02055.hp1
HG02257.hp2
HG02698.hp2
others(7): Show 
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03098.hp1
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-4967T>C
c.295-4967T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156584264
chr5:156584416 G
G
A
A
32 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(29): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0057g0110
32 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(29): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02129.hp2
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03239.hp2
NA18522.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-4815G>A
c.295-4815G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156584416
chr5:156584565 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.295-4666A>G
c.295-4666A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156584565
chr5:156584624 CTGCTTCT
others(12): Show 
CTGCTTCTTTCTGTCACCTA
C
C
105 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(102): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
105 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(102): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-4587_295-4569d
others(21): Show 
c.295-4587_295-4569delTGCTTCTTTCTGTCACCTA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156584624
chr5:156584701 A
A
C
C
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.295-4530A>C
c.295-4530A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156584701
chr5:156584782 ATATGTTT
others(4): Show 
ATATGTTTAGAT
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.295-4445_295-4435d
others(13): Show 
c.295-4445_295-4435delGTTTAGATTAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156584782
chr5:156585038 T
T
C
C
23 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(20): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
23 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(20): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-4193T>C
c.295-4193T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156585038
chr5:156585044 G
G
C
C
84 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(81): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
84 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(81): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-4187G>C
c.295-4187G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156585044
chr5:156585069 T
T
C
C
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-4162T>C
c.295-4162T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156585069
chr5:156585183 C
C
T
T
9 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0057g0110
9 HG02055.hp1
HG02257.hp2
HG02698.hp2
others(6): Show 
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03098.hp1
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-4048C>T
c.295-4048C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156585183
chr5:156585191 C
C
T
T
2 a0001c0001t0032g0020
a0001c0002t0005g0082
a0001c0001t0032g0020
a0001c0002t0005g0082
2 HG02056.hp1
HG03490.hp2
HG02056.hp1
HG03490.hp2
intron_variant MODIFIER c.295-4040C>T
c.295-4040C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156585191
chr5:156585507 T
T
C
C
1 a0001c0002t0002g0102
a0001c0002t0002g0102
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.295-3724T>C
c.295-3724T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156585507
chr5:156586063 G
G
GTT
GTT
33 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0012g0059
others(30): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
33 HG01109.hp2
HG01169.hp2
HG01243.hp1
others(30): Show 
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02630.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp1
intron_variant MODIFIER c.295-3157_295-3156d
others(4): Show 
c.295-3157_295-3156dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156586063
chr5:156586063 GT
GT
G
G
27 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0117
others(24): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0005g0047
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0042g0065
a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0004g0088
a0001c0002t0004g0114
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0054g0073
a0001c0002t0057g0110
27 HG00558.hp1
HG00639.hp1
HG01258.hp2
others(24): Show 
HG00558.hp1
HG00639.hp1
HG01258.hp2
HG01261.hp1
HG01981.hp1
HG02055.hp1
HG02129.hp1
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
NA18906.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.295-3156delT
c.295-3156delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156586063
chr5:156586065 T
T
TC
TC
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-3166_295-3165i
others(3): Show 
c.295-3166_295-3165insC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156586065
chr5:156586112 C
C
T
T
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.295-3119C>T
c.295-3119C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156586112
chr5:156586258 T
T
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-2973T>A
c.295-2973T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156586258
chr5:156586344 G
G
A
A
15 a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
others(12): Show 
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
15 HG01256.hp1
HG01258.hp1
HG01261.hp2
others(12): Show 
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03130.hp2
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA20129.hp1
intron_variant MODIFIER c.295-2887G>A
c.295-2887G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156586344
chr5:156586641 A
A
G
G
1 a0001c0002t0011g0083
a0001c0002t0011g0083
1 HG02258.hp1
HG02258.hp1
intron_variant MODIFIER c.295-2590A>G
c.295-2590A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156586641
chr5:156586677 A
A
G
G
15 a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
others(12): Show 
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
15 HG01256.hp1
HG01258.hp1
HG01261.hp2
others(12): Show 
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03130.hp2
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA20129.hp1
intron_variant MODIFIER c.295-2554A>G
c.295-2554A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156586677
chr5:156586821 G
G
T
T
32 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(29): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0057g0110
32 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(29): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02129.hp2
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03239.hp2
NA18522.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-2410G>T
c.295-2410G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156586821
chr5:156587008 A
A
G
G
1 a0001c0001t0006g0041
a0001c0001t0006g0041
1 HG03579.hp2
HG03579.hp2
intron_variant MODIFIER c.295-2223A>G
c.295-2223A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156587008
chr5:156587169 T
T
G
G
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
9 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(6): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.295-2062T>G
c.295-2062T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156587169
chr5:156587432 C
C
T
T
1 a0001c0002t0008g0006
a0001c0002t0008g0006
1 HG02040.hp1
HG02040.hp1
intron_variant MODIFIER c.295-1799C>T
c.295-1799C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156587432
chr5:156587492 G
G
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.295-1739G>T
c.295-1739G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156587492
chr5:156587603 C
C
T
T
1 a0001c0002t0002g0075
a0001c0002t0002g0075
1 NA19009.hp2
NA19009.hp2
intron_variant MODIFIER c.295-1628C>T
c.295-1628C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156587603
chr5:156587668 C
C
T
T
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.295-1563C>T
c.295-1563C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156587668
chr5:156587849 C
C
T
T
9 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(6): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0057g0110
9 HG02055.hp1
HG02257.hp2
HG02698.hp2
others(6): Show 
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03098.hp1
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-1382C>T
c.295-1382C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156587849
chr5:156588038 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.295-1193A>G
c.295-1193A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156588038
chr5:156588141 C
C
A
A
32 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(29): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0057g0110
32 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(29): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02129.hp2
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03239.hp2
NA18522.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-1090C>A
c.295-1090C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156588141
chr5:156588210 C
C
A
A
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.295-1021C>A
c.295-1021C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156588210
chr5:156588349 T
T
C
C
23 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(20): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
23 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(20): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-882T>C
c.295-882T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156588349
chr5:156588733 A
A
G
G
10 a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
others(7): Show 
a0001c0001t0001g0052
a0001c0001t0009g0067
a0001c0001t0026g0016
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0057g0110
10 HG02055.hp1
HG02257.hp2
HG02698.hp2
others(7): Show 
HG02055.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG03098.hp1
HG03130.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.295-498A>G
c.295-498A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156588733
chr5:156588945 G
G
A
A
23 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(20): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
23 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(20): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03239.hp2
NA18522.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.295-286G>A
c.295-286G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156588945
chr5:156588953 C
C
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.295-278C>A
c.295-278C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156588953
chr5:156588988 T
T
TTG
TTG
21 a0001c0001t0001g0133
a0001c0001t0003g0022
a0001c0001t0003g0056
others(18): Show 
a0001c0001t0001g0133
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0005g0047
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0036g0043
a0001c0001t0039g0004
a0001c0002t0002g0069
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0113
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0011g0051
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0002c0003t0017g0014
21 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(18): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG01258.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02723.hp1
HG02809.hp2
HG02897.hp2
HG03098.hp1
HG04115.hp1
HG04115.hp2
NA18906.hp1
NA18964.hp1
NA18990.hp2
NA19010.hp2
NA19240.hp2
intron_variant MODIFIER c.295-208_295-207dup
others(2): Show 
c.295-208_295-207dupTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156588988
chr5:156588988 T
T
TTGTG
TTGTG
17 a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0052
others(14): Show 
a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0052
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0108
a0001c0002t0028g0034
17 HG01109.hp1
HG01169.hp2
HG01256.hp2
others(14): Show 
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG02257.hp2
HG02717.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03239.hp2
HG03704.hp2
NA19002.hp1
NA19043.hp2
NA20805.hp2
intron_variant MODIFIER c.295-210_295-207dup
others(4): Show 
c.295-210_295-207dupTGTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156588988
chr5:156588988 T
T
TTGTGTG
TTGTGTG
11 a0001c0001t0003g0125
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0003g0125
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0044g0026
a0001c0002t0051g0099
11 HG01081.hp2
HG02056.hp1
HG02698.hp2
others(8): Show 
HG01081.hp2
HG02056.hp1
HG02698.hp2
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03130.hp2
HG03471.hp2
HG03490.hp2
NA19030.hp1
NA19066.hp2
intron_variant MODIFIER c.295-212_295-207dup
others(6): Show 
c.295-212_295-207dupTGTGTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156588988
chr5:156588988 T
T
TTGTGTGT
others(1): Show 
TTGTGTGTG
10 a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0025g0035
others(7): Show 
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0047g0003
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
a0001c0002t0050g0072
a0003c0005t0001g0148
10 HG01243.hp2
HG02055.hp1
HG02258.hp1
others(7): Show 
HG01243.hp2
HG02055.hp1
HG02258.hp1
HG02615.hp1
HG02735.hp1
HG03139.hp1
NA18522.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.295-214_295-207dup
others(8): Show 
c.295-214_295-207dupTGTGTGTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156588988
chr5:156588988 T
T
TTGTGTGT
others(3): Show 
TTGTGTGTGTG
4 a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0013g0057
others(1): Show 
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0013g0057
a0001c0002t0059g0002
4 HG01981.hp1
HG02723.hp2
HG03225.hp1
others(1): Show 
HG01981.hp1
HG02723.hp2
HG03225.hp1
NA18959.hp1
intron_variant MODIFIER c.295-216_295-207dup
others(10): Show 
c.295-216_295-207dupTGTGTGTGTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156588988
chr5:156588988 T
T
TTGTGTGT
others(5): Show 
TTGTGTGTGTGTG
16 a0001c0001t0001g0117
a0001c0001t0018g0039
a0001c0001t0020g0017
others(13): Show 
a0001c0001t0001g0117
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0002t0008g0006
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0057g0110
a0001c0002t0058g0089
a0004c0007t0020g0012
16 HG01256.hp1
HG01258.hp1
HG01261.hp2
others(13): Show 
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02145.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
NA18906.hp2
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.295-218_295-207dup
others(12): Show 
c.295-218_295-207dupTGTGTGTGTGTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156588988
chr5:156588988 T
T
TTGTGTGT
others(7): Show 
TTGTGTGTGTGTGTG
3 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
3 HG01109.hp2
HG02055.hp2
HG02615.hp2
HG01109.hp2
HG02055.hp2
HG02615.hp2
intron_variant MODIFIER c.295-220_295-207dup
others(14): Show 
c.295-220_295-207dupTGTGTGTGTGTGTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156588988
chr5:156588988 T
T
TTGTGTGT
others(9): Show 
TTGTGTGTGTGTGTGTG
1 a0001c0001t0016g0144
a0001c0001t0016g0144
1 HG01243.hp1
HG01243.hp1
intron_variant MODIFIER c.295-222_295-207dup
others(16): Show 
c.295-222_295-207dupTGTGTGTGTGTGTGTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156588988
chr5:156588988 TTG
TTG
T
T
4 a0001c0001t0009g0036
a0001c0001t0038g0044
a0001c0001t0048g0053
others(1): Show 
a0001c0001t0009g0036
a0001c0001t0038g0044
a0001c0001t0048g0053
a0001c0002t0004g0104
4 HG00639.hp2
HG02056.hp2
HG02083.hp1
others(1): Show 
HG00639.hp2
HG02056.hp2
HG02083.hp1
HG02895.hp1
intron_variant MODIFIER c.295-208_295-207del
others(2): Show 
c.295-208_295-207delTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chr5 156588988
chr5:156589141 C
C
T
T
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.295-90C>T
c.295-90C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156589141
chr5:156589191 T
T
A
A
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.295-40T>A
c.295-40T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 4/8 chr5 156589191
chr5:156589385 C
C
G
G
2 a0001c0001t0001g0052
a0001c0002t0023g0112
a0001c0001t0001g0052
a0001c0002t0023g0112
2 HG02257.hp2
HG03098.hp1
HG02257.hp2
HG03098.hp1
intron_variant MODIFIER c.382+67C>G
c.382+67C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156589385
chr5:156589418 T
T
A
A
1 a0001c0002t0015g0081
a0001c0002t0015g0081
1 NA19003.hp2
NA19003.hp2
intron_variant MODIFIER c.382+100T>A
c.382+100T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156589418
chr5:156589547 A
A
C
C
1 a0001c0002t0015g0081
a0001c0002t0015g0081
1 NA19003.hp2
NA19003.hp2
intron_variant MODIFIER c.382+229A>C
c.382+229A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156589547
chr5:156589550 T
T
A
A
83 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(80): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(80): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.382+232T>A
c.382+232T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156589550
chr5:156590052 A
A
G
G
2 a0001c0001t0001g0116
a0001c0002t0058g0089
a0001c0001t0001g0116
a0001c0002t0058g0089
2 HG02055.hp2
HG02145.hp2
HG02055.hp2
HG02145.hp2
intron_variant MODIFIER c.382+734A>G
c.382+734A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156590052
chr5:156590075 A
A
G
G
31 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
others(28): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
31 HG01109.hp2
HG01243.hp1
HG01243.hp2
others(28): Show 
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02735.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp1
intron_variant MODIFIER c.382+757A>G
c.382+757A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156590075
chr5:156590079 A
A
G
G
84 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(81): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
84 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(81): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.382+761A>G
c.382+761A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156590079
chr5:156590151 G
G
A
A
83 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(80): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(80): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.382+833G>A
c.382+833G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156590151
chr5:156590321 A
A
T
T
1 a0001c0002t0054g0073
a0001c0002t0054g0073
1 NA18990.hp1
NA18990.hp1
intron_variant MODIFIER c.382+1003A>T
c.382+1003A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156590321
chr5:156590545 G
G
T
T
1 a0001c0001t0003g0018
a0001c0001t0003g0018
1 HG03490.hp1
HG03490.hp1
intron_variant MODIFIER c.382+1227G>T
c.382+1227G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156590545
chr5:156590589 T
T
C
C
7 a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
others(4): Show 
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0059g0002
a0004c0007t0020g0012
7 HG01261.hp2
HG01516.hp2
HG01978.hp2
others(4): Show 
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02056.hp1
HG03490.hp2
NA18959.hp1
intron_variant MODIFIER c.382+1271T>C
c.382+1271T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156590589
chr5:156590621 T
T
C
C
19 a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.382+1303T>C
c.382+1303T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156590621
chr5:156590747 T
T
TC
TC
6 a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
others(3): Show 
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0002t0005g0082
a0001c0002t0008g0006
a0004c0007t0020g0012
6 HG01261.hp2
HG01516.hp2
HG01978.hp2
others(3): Show 
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02056.hp1
HG03490.hp2
intron_variant MODIFIER c.382+1435dupC
c.382+1435dupC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chr5 156590747
chr5:156590775 C
C
T
T
2 a0001c0001t0021g0046
a0001c0002t0024g0100
a0001c0001t0021g0046
a0001c0002t0024g0100
2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
intron_variant MODIFIER c.382+1457C>T
c.382+1457C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156590775
chr5:156590793 C
C
G
G
1 a0001c0002t0050g0072
a0001c0002t0050g0072
1 HG02055.hp1
HG02055.hp1
intron_variant MODIFIER c.382+1475C>G
c.382+1475C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156590793
chr5:156590958 T
T
C
C
6 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0029g0024
others(3): Show 
a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0029g0024
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG02055.hp1
HG02723.hp2
HG03098.hp2
others(3): Show 
HG02055.hp1
HG02723.hp2
HG03098.hp2
HG03130.hp2
NA18522.hp2
NA18906.hp2
intron_variant MODIFIER c.382+1640T>C
c.382+1640T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156590958
chr5:156591045 A
A
AAC
AAC
67 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
others(64): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0003c0005t0001g0148
a0004c0007t0020g0012
67 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(64): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.382+1741_382+1742d
others(4): Show 
c.382+1741_382+1742dupCA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chr5 156591045
chr5:156591354 A
A
G
G
81 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(78): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0003c0005t0001g0148
a0004c0007t0020g0012
81 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(78): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.382+2036A>G
c.382+2036A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156591354
chr5:156591397 T
T
A
A
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.382+2079T>A
c.382+2079T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156591397
chr5:156592187 A
A
AGAG
AGAG
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.383-2744_383-2742d
others(5): Show 
c.383-2744_383-2742dupGAG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chr5 156592187
chr5:156592283 A
A
T
T
1 a0001c0001t0003g0119
a0001c0001t0003g0119
1 HG02735.hp2
HG02735.hp2
intron_variant MODIFIER c.383-2649A>T
c.383-2649A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156592283
chr5:156592300 G
G
A
A
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.383-2632G>A
c.383-2632G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156592300
chr5:156592369 C
C
T
T
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.383-2563C>T
c.383-2563C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156592369
chr5:156592471 A
A
G
G
15 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(12): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
15 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(12): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.383-2461A>G
c.383-2461A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156592471
chr5:156592479 T
T
G
G
1 a0001c0002t0051g0099
a0001c0002t0051g0099
1 NA19066.hp2
NA19066.hp2
intron_variant MODIFIER c.383-2453T>G
c.383-2453T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156592479
chr5:156592803 C
C
T
T
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.383-2129C>T
c.383-2129C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156592803
chr5:156592909 G
G
A
A
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.383-2023G>A
c.383-2023G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156592909
chr5:156593023 AG
AG
A
A
16 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
others(13): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
16 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(13): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA19043.hp2
NA20129.hp1
intron_variant MODIFIER c.383-1908delG
c.383-1908delG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156593023
chr5:156593200 G
G
C
C
2 a0001c0001t0047g0003
a0001c0002t0044g0026
a0001c0001t0047g0003
a0001c0002t0044g0026
2 HG03471.hp2
NA20129.hp1
HG03471.hp2
NA20129.hp1
intron_variant MODIFIER c.383-1732G>C
c.383-1732G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156593200
chr5:156593371 A
A
G
G
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.383-1561A>G
c.383-1561A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156593371
chr5:156593488 G
G
A
A
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.383-1444G>A
c.383-1444G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156593488
chr5:156593552 G
G
C
C
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.383-1380G>C
c.383-1380G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156593552
chr5:156593753 G
G
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.383-1179G>A
c.383-1179G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156593753
chr5:156593773 C
C
G
G
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.383-1159C>G
c.383-1159C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156593773
chr5:156593827 A
A
G
G
1 a0001c0002t0053g0085
a0001c0002t0053g0085
1 HG03453.hp1
HG03453.hp1
intron_variant MODIFIER c.383-1105A>G
c.383-1105A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156593827
chr5:156594268 T
T
C
C
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.383-664T>C
c.383-664T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156594268
chr5:156594406 C
C
G
G
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.383-526C>G
c.383-526C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156594406
chr5:156594516 T
T
C
C
19 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(16): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.383-416T>C
c.383-416T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156594516
chr5:156594761 A
A
G
G
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.383-171A>G
c.383-171A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 5/8 chr5 156594761
chr5:156595091 G
G
A
A
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.502+40G>A
c.502+40G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156595091
chr5:156595146 A
A
C
C
1 a0001c0001t0006g0038
a0001c0001t0006g0038
1 HG02809.hp1
HG02809.hp1
intron_variant MODIFIER c.502+95A>C
c.502+95A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156595146
chr5:156595297 G
G
C
C
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.502+246G>C
c.502+246G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156595297
chr5:156595301 G
G
T
T
2 a0001c0001t0001g0116
a0001c0001t0037g0042
a0001c0001t0001g0116
a0001c0001t0037g0042
2 HG02055.hp2
NA19043.hp2
HG02055.hp2
NA19043.hp2
intron_variant MODIFIER c.502+250G>T
c.502+250G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156595301
chr5:156595519 A
A
C
C
19 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(16): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.502+468A>C
c.502+468A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156595519
chr5:156595564 A
A
T
T
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+513A>T
c.502+513A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156595564
chr5:156595623 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+572T>C
c.502+572T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156595623
chr5:156595653 A
A
C
C
15 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(12): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
15 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(12): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+602A>C
c.502+602A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156595653
chr5:156595780 A
A
G
G
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+729A>G
c.502+729A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156595780
chr5:156595926 T
T
C
C
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+875T>C
c.502+875T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156595926
chr5:156595951 T
T
G
G
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.502+900T>G
c.502+900T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156595951
chr5:156596012 G
G
A
A
3 a0001c0001t0001g0150
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0001g0150
a0001c0001t0009g0049
a0001c0001t0014g0048
3 HG02723.hp1
HG03139.hp2
HG03486.hp1
HG02723.hp1
HG03139.hp2
HG03486.hp1
intron_variant MODIFIER c.502+961G>A
c.502+961G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156596012
chr5:156596069 G
G
C
C
4 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0016g0144
others(1): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0016g0144
a0001c0001t0041g0028
4 HG01243.hp1
HG02615.hp1
HG02895.hp2
others(1): Show 
HG01243.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.502+1018G>C
c.502+1018G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156596069
chr5:156596226 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+1175A>G
c.502+1175A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156596226
chr5:156596379 T
T
C
C
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+1328T>C
c.502+1328T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156596379
chr5:156596410 A
A
G
G
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+1359A>G
c.502+1359A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156596410
chr5:156596477 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+1426T>C
c.502+1426T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156596477
chr5:156596840 C
C
A
A
28 a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0005g0129
others(25): Show 
a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
28 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(25): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02965.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.502+1789C>A
c.502+1789C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156596840
chr5:156596841 A
A
G
G
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+1790A>G
c.502+1790A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156596841
chr5:156597149 G
G
C
C
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+2098G>C
c.502+2098G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156597149
chr5:156597264 G
G
A
A
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.502+2213G>A
c.502+2213G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156597264
chr5:156597424 A
A
AT
AT
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+2377dupT
c.502+2377dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156597424
chr5:156597549 A
A
G
G
1 a0001c0001t0031g0021
a0001c0001t0031g0021
1 HG01978.hp2
HG01978.hp2
intron_variant MODIFIER c.502+2498A>G
c.502+2498A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156597549
chr5:156597586 C
C
T
T
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.502+2535C>T
c.502+2535C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156597586
chr5:156597597 C
C
A
A
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+2546C>A
c.502+2546C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156597597
chr5:156597608 G
G
A
A
12 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0133
others(9): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
12 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(9): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG02129.hp2
HG03139.hp1
HG03239.hp2
NA19066.hp2
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+2557G>A
c.502+2557G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156597608
chr5:156597673 T
T
A
A
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+2622T>A
c.502+2622T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156597673
chr5:156597700 G
G
A
A
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.502+2649G>A
c.502+2649G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156597700
chr5:156597764 AG
AG
A
A
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+2715delG
c.502+2715delG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156597764
chr5:156598101 G
G
A
A
15 a0001c0001t0001g0147
a0001c0001t0006g0040
a0001c0001t0012g0059
others(12): Show 
a0001c0001t0001g0147
a0001c0001t0006g0040
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
15 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(12): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+3050G>A
c.502+3050G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156598101
chr5:156598124 A
A
G
G
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.502+3073A>G
c.502+3073A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156598124
chr5:156598492 A
A
C
C
2 a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0012g0010
a0001c0001t0020g0017
2 HG01981.hp1
HG02622.hp1
HG01981.hp1
HG02622.hp1
intron_variant MODIFIER c.502+3441A>C
c.502+3441A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156598492
chr5:156598496 C
C
T
T
12 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0133
others(9): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
12 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(9): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG02129.hp2
HG03139.hp1
HG03239.hp2
NA19066.hp2
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+3445C>T
c.502+3445C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156598496
chr5:156598604 G
G
GA
GA
6 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0029g0024
others(3): Show 
a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0029g0024
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG02055.hp1
HG02723.hp2
HG03098.hp2
others(3): Show 
HG02055.hp1
HG02723.hp2
HG03098.hp2
HG03130.hp2
NA18522.hp2
NA18906.hp2
intron_variant MODIFIER c.502+3558dupA
c.502+3558dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156598604
chr5:156598944 G
G
A
A
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+3893G>A
c.502+3893G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156598944
chr5:156599380 G
G
GA
GA
50 a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
others(47): Show 
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0080
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
50 HG00558.hp2
HG00639.hp2
HG01109.hp2
others(47): Show 
HG00558.hp2
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.502+4338dupA
c.502+4338dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156599380
chr5:156599433 G
G
T
T
16 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
others(13): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
16 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(13): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA19043.hp2
NA20129.hp1
intron_variant MODIFIER c.502+4382G>T
c.502+4382G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156599433
chr5:156599876 C
C
T
T
4 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
others(1): Show 
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
4 HG02698.hp2
NA18990.hp2
NA19002.hp1
others(1): Show 
HG02698.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.502+4825C>T
c.502+4825C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156599876
chr5:156600139 C
C
T
T
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+5088C>T
c.502+5088C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156600139
chr5:156600284 T
T
C
C
23 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(20): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
23 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(20): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+5233T>C
c.502+5233T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156600284
chr5:156600304 A
A
T
T
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+5253A>T
c.502+5253A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156600304
chr5:156600361 C
C
G
G
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.502+5310C>G
c.502+5310C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156600361
chr5:156601292 C
C
T
T
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+6241C>T
c.502+6241C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156601292
chr5:156601430 A
A
C
C
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.502+6379A>C
c.502+6379A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156601430
chr5:156601532 T
T
C
C
2 a0001c0001t0021g0046
a0001c0002t0024g0100
a0001c0001t0021g0046
a0001c0002t0024g0100
2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
intron_variant MODIFIER c.502+6481T>C
c.502+6481T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156601532
chr5:156601659 G
G
A
A
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.502+6608G>A
c.502+6608G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156601659
chr5:156601796 G
G
A
A
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.502+6745G>A
c.502+6745G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156601796
chr5:156601825 A
A
G
G
31 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0122
others(28): Show 
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
31 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(28): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.502+6774A>G
c.502+6774A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156601825
chr5:156601840 C
C
T
T
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.502+6789C>T
c.502+6789C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156601840
chr5:156601872 C
C
CG
CG
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+6824dupG
c.502+6824dupG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156601872
chr5:156601872 C
C
T
T
9 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(6): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0056
a0001c0001t0009g0142
a0001c0001t0014g0055
a0001c0002t0002g0069
a0001c0002t0004g0113
a0001c0006t0018g0145
9 HG01070.hp2
HG01071.hp2
HG01169.hp1
others(6): Show 
HG01070.hp2
HG01071.hp2
HG01169.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03579.hp1
NA19043.hp1
NA19240.hp2
intron_variant MODIFIER c.502+6821C>T
c.502+6821C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156601872
chr5:156601883 G
G
A
A
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+6832G>A
c.502+6832G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156601883
chr5:156601897 G
G
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.502+6846G>A
c.502+6846G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156601897
chr5:156602008 G
G
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+6957G>A
c.502+6957G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156602008
chr5:156602027 T
T
C
C
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+6976T>C
c.502+6976T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156602027
chr5:156602155 CT
CT
C
C
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+7108delT
c.502+7108delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156602155
chr5:156602301 C
C
CACA
CACA
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+7253_502+7255d
others(5): Show 
c.502+7253_502+7255dupAAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156602301
chr5:156602344 A
A
AT
AT
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+7303dupT
c.502+7303dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156602344
chr5:156602501 C
C
T
T
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.502+7450C>T
c.502+7450C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156602501
chr5:156602505 T
T
G
G
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.502+7454T>G
c.502+7454T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156602505
chr5:156602605 T
T
C
C
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+7554T>C
c.502+7554T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156602605
chr5:156602728 C
C
T
T
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+7677C>T
c.502+7677C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156602728
chr5:156602782 G
G
A
A
1 a0001c0002t0008g0006
a0001c0002t0008g0006
1 HG02040.hp1
HG02040.hp1
intron_variant MODIFIER c.502+7731G>A
c.502+7731G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156602782
chr5:156602877 G
G
A
A
1 a0001c0002t0008g0076
a0001c0002t0008g0076
1 NA19010.hp1
NA19010.hp1
intron_variant MODIFIER c.502+7826G>A
c.502+7826G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156602877
chr5:156603005 A
A
G
G
6 a0001c0001t0001g0045
a0001c0002t0002g0080
a0001c0002t0002g0098
others(3): Show 
a0001c0001t0001g0045
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0011g0051
a0001c0002t0023g0071
6 HG01981.hp2
HG02040.hp2
HG02071.hp1
others(3): Show 
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
NA18964.hp1
NA19002.hp2
intron_variant MODIFIER c.502+7954A>G
c.502+7954A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603005
chr5:156603018 A
A
T
T
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+7967A>T
c.502+7967A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603018
chr5:156603032 AGT
AGT
A
A
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+7984_502+7985d
others(4): Show 
c.502+7984_502+7985delGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156603032
chr5:156603107 A
A
C
C
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+8056A>C
c.502+8056A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603107
chr5:156603112 T
T
C
C
1 a0001c0001t0001g0045
a0001c0001t0001g0045
1 NA19002.hp2
NA19002.hp2
intron_variant MODIFIER c.502+8061T>C
c.502+8061T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603112
chr5:156603128 G
G
T
T
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+8077G>T
c.502+8077G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603128
chr5:156603176 A
A
G
G
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+8125A>G
c.502+8125A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603176
chr5:156603237 C
C
T
T
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+8186C>T
c.502+8186C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603237
chr5:156603286 G
G
A
A
23 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(20): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
23 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(20): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+8235G>A
c.502+8235G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603286
chr5:156603346 T
T
C
C
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.502+8295T>C
c.502+8295T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603346
chr5:156603396 T
T
A
A
1 a0001c0002t0056g0096
a0001c0002t0056g0096
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.502+8345T>A
c.502+8345T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603396
chr5:156603538 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.502+8487G>A
c.502+8487G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603538
chr5:156603572 A
A
G
G
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.502+8521A>G
c.502+8521A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603572
chr5:156603727 T
T
C
C
31 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0122
others(28): Show 
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
31 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(28): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.502+8676T>C
c.502+8676T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603727
chr5:156603936 T
T
C
C
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+8885T>C
c.502+8885T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156603936
chr5:156604045 A
A
G
G
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
7 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(4): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.502+8994A>G
c.502+8994A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156604045
chr5:156604079 A
A
T
T
23 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(20): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
23 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(20): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+9028A>T
c.502+9028A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156604079
chr5:156604114 T
T
C
C
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+9063T>C
c.502+9063T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156604114
chr5:156604124 G
G
C
C
1 a0001c0002t0055g0091
a0001c0002t0055g0091
1 HG00558.hp2
HG00558.hp2
intron_variant MODIFIER c.502+9073G>C
c.502+9073G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156604124
chr5:156604310 A
A
C
C
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+9259A>C
c.502+9259A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156604310
chr5:156604365 A
A
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+9314A>C
c.502+9314A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156604365
chr5:156604591 A
A
T
T
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.502+9540A>T
c.502+9540A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156604591
chr5:156604598 A
A
G
G
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+9547A>G
c.502+9547A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156604598
chr5:156604726 A
A
ATATATGT
others(22): Show 
ATATATGTATATATACATATATACACATTT
71 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(68): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0033g0141
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0028g0034
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
71 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(68): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.502+9715_502+9743d
others(31): Show 
c.502+9715_502+9743dupTATACATATATACACATTTTATATGTAT
A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156604726
chr5:156604726 A
A
ATATATGT
others(51): Show 
ATATATGTATATATACATATATACACATTTTATATGTATATATACATATA
TACACATTT
4 a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0036g0043
others(1): Show 
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0036g0043
a0001c0002t0052g0111
4 HG02258.hp2
HG03453.hp2
HG03471.hp1
others(1): Show 
HG02258.hp2
HG03453.hp2
HG03471.hp1
NA18906.hp1
intron_variant MODIFIER c.502+9686_502+9743d
others(60): Show 
c.502+9686_502+9743dupTATACATATATACACATTTTATATGTAT
ATATACATATATACACATTTTATATGTATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156604726
chr5:156604726 A
A
T
T
6 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0029g0024
others(3): Show 
a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0029g0024
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG02055.hp1
HG02723.hp2
HG03098.hp2
others(3): Show 
HG02055.hp1
HG02723.hp2
HG03098.hp2
HG03130.hp2
NA18522.hp2
NA18906.hp2
intron_variant MODIFIER c.502+9675A>T
c.502+9675A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156604726
chr5:156604850 A
A
C
C
10 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
10 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(7): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.502+9799A>C
c.502+9799A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156604850
chr5:156604875 A
A
G
G
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+9824A>G
c.502+9824A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156604875
chr5:156604888 G
G
A
A
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.502+9837G>A
c.502+9837G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156604888
chr5:156605008 G
G
T
T
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+9957G>T
c.502+9957G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605008
chr5:156605041 T
T
TTG
TTG
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+10004_502+1000
others(6): Show 
c.502+10004_502+10005dupGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156605041
chr5:156605058 T
T
C
C
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.502+10007T>C
c.502+10007T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605058
chr5:156605169 G
G
T
T
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+10118G>T
c.502+10118G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605169
chr5:156605186 G
G
T
T
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.502+10135G>T
c.502+10135G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605186
chr5:156605207 C
C
G
G
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.502+10156C>G
c.502+10156C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605207
chr5:156605320 A
A
G
G
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+10269A>G
c.502+10269A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605320
chr5:156605402 A
A
G
G
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+10351A>G
c.502+10351A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605402
chr5:156605438 C
C
T
T
19 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(16): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.502+10387C>T
c.502+10387C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605438
chr5:156605507 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+10456A>G
c.502+10456A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605507
chr5:156605510 C
C
T
T
2 a0002c0003t0003g0140
a0002c0003t0017g0014
a0002c0003t0003g0140
a0002c0003t0017g0014
2 HG02559.hp1
HG04115.hp2
HG02559.hp1
HG04115.hp2
intron_variant MODIFIER c.502+10459C>T
c.502+10459C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605510
chr5:156605672 A
A
C
C
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+10621A>C
c.502+10621A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605672
chr5:156605758 G
G
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+10707G>C
c.502+10707G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605758
chr5:156605872 C
C
A
A
1 a0001c0002t0028g0034
a0001c0002t0028g0034
1 HG02717.hp1
HG02717.hp1
intron_variant MODIFIER c.502+10821C>A
c.502+10821C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605872
chr5:156605915 G
G
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.502+10864G>A
c.502+10864G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605915
chr5:156605926 T
T
C
C
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+10875T>C
c.502+10875T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605926
chr5:156605934 T
T
G
G
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.502+10883T>G
c.502+10883T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605934
chr5:156605971 A
A
G
G
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+10920A>G
c.502+10920A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156605971
chr5:156606045 C
C
T
T
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+10994C>T
c.502+10994C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606045
chr5:156606067 A
A
G
G
1 a0001c0002t0002g0075
a0001c0002t0002g0075
1 NA19009.hp2
NA19009.hp2
intron_variant MODIFIER c.502+11016A>G
c.502+11016A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606067
chr5:156606229 C
C
G
G
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.502+11178C>G
c.502+11178C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606229
chr5:156606261 C
C
T
T
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.502+11210C>T
c.502+11210C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606261
chr5:156606334 A
A
T
T
1 a0001c0002t0002g0093
a0001c0002t0002g0093
1 NA18953.hp2
NA18953.hp2
intron_variant MODIFIER c.502+11283A>T
c.502+11283A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606334
chr5:156606354 G
G
A
A
4 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0037g0042
others(1): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0037g0042
a0001c0002t0058g0089
4 HG01109.hp2
HG02055.hp2
HG02145.hp2
others(1): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp2
NA19043.hp2
intron_variant MODIFIER c.502+11303G>A
c.502+11303G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606354
chr5:156606361 T
T
C
C
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+11310T>C
c.502+11310T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606361
chr5:156606401 C
C
G
G
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.502+11350C>G
c.502+11350C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606401
chr5:156606694 C
C
T
T
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.502+11643C>T
c.502+11643C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606694
chr5:156606700 C
C
G
G
15 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(12): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
15 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(12): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+11649C>G
c.502+11649C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606700
chr5:156606708 C
C
A
A
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.502+11657C>A
c.502+11657C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606708
chr5:156606756 C
C
G
G
1 a0001c0001t0007g0126
a0001c0001t0007g0126
1 HG02155.hp2
HG02155.hp2
intron_variant MODIFIER c.502+11705C>G
c.502+11705C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606756
chr5:156606983 G
G
A
A
13 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(10): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0002g0077
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0008g0115
a0001c0002t0011g0090
a0001c0002t0051g0099
13 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(10): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA18966.hp2
NA19010.hp1
NA19066.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.502+11932G>A
c.502+11932G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156606983
chr5:156607132 A
A
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+12081A>C
c.502+12081A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607132
chr5:156607231 G
G
A
A
15 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(12): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
15 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(12): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+12180G>A
c.502+12180G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607231
chr5:156607305 A
A
T
T
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+12254A>T
c.502+12254A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607305
chr5:156607342 T
T
G
G
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.502+12291T>G
c.502+12291T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607342
chr5:156607362 A
A
T
T
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.502+12311A>T
c.502+12311A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607362
chr5:156607463 G
G
A
A
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
7 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(4): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.502+12412G>A
c.502+12412G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607463
chr5:156607472 A
A
G
G
15 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(12): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
15 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(12): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+12421A>G
c.502+12421A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607472
chr5:156607555 A
A
C
C
1 a0001c0001t0003g0013
a0001c0001t0003g0013
1 NA20805.hp1
NA20805.hp1
intron_variant MODIFIER c.502+12504A>C
c.502+12504A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607555
chr5:156607561 C
C
A
A
1 a0001c0001t0003g0013
a0001c0001t0003g0013
1 NA20805.hp1
NA20805.hp1
intron_variant MODIFIER c.502+12510C>A
c.502+12510C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607561
chr5:156607593 G
G
A
A
1 a0001c0001t0003g0013
a0001c0001t0003g0013
1 NA20805.hp1
NA20805.hp1
intron_variant MODIFIER c.502+12542G>A
c.502+12542G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607593
chr5:156607657 C
C
T
T
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+12606C>T
c.502+12606C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607657
chr5:156607659 G
G
T
T
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+12608G>T
c.502+12608G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607659
chr5:156607666 C
C
T
T
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.502+12615C>T
c.502+12615C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607666
chr5:156607692 G
G
A
A
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+12641G>A
c.502+12641G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607692
chr5:156607714 C
C
CA
CA
135 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(132): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
135 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(132): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.502+12664dupA
c.502+12664dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156607714
chr5:156607714 C
C
CT
CT
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+12663_502+1266
others(5): Show 
c.502+12663_502+12664insT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607714
chr5:156607738 A
A
G
G
12 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0133
others(9): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
12 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(9): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG02129.hp2
HG03139.hp1
HG03239.hp2
NA19066.hp2
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+12687A>G
c.502+12687A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607738
chr5:156607788 C
C
G
G
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.502+12737C>G
c.502+12737C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607788
chr5:156607802 A
A
G
G
1 a0001c0002t0013g0032
a0001c0002t0013g0032
1 HG03130.hp1
HG03130.hp1
intron_variant MODIFIER c.502+12751A>G
c.502+12751A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607802
chr5:156607830 T
T
C
C
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+12779T>C
c.502+12779T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607830
chr5:156607912 T
T
A
A
31 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0122
others(28): Show 
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
31 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(28): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.502+12861T>A
c.502+12861T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607912
chr5:156607943 G
G
T
T
1 a0001c0001t0001g0116
a0001c0001t0001g0116
1 HG02055.hp2
HG02055.hp2
intron_variant MODIFIER c.502+12892G>T
c.502+12892G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607943
chr5:156607944 G
G
A
A
1 a0001c0001t0001g0116
a0001c0001t0001g0116
1 HG02055.hp2
HG02055.hp2
intron_variant MODIFIER c.502+12893G>A
c.502+12893G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156607944
chr5:156608089 T
T
C
C
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.502+13038T>C
c.502+13038T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608089
chr5:156608357 A
A
C
C
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+13306A>C
c.502+13306A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608357
chr5:156608358 G
G
A
A
1 a0001c0002t0008g0105
a0001c0002t0008g0105
1 NA19090.hp1
NA19090.hp1
intron_variant MODIFIER c.502+13307G>A
c.502+13307G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608358
chr5:156608361 C
C
T
T
1 a0001c0002t0004g0113
a0001c0002t0004g0113
1 HG01071.hp2
HG01071.hp2
intron_variant MODIFIER c.502+13310C>T
c.502+13310C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608361
chr5:156608362 G
G
A
A
28 a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0005g0129
others(25): Show 
a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
28 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(25): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02965.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.502+13311G>A
c.502+13311G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608362
chr5:156608441 G
G
C
C
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+13390G>C
c.502+13390G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608441
chr5:156608461 C
C
A
A
7 a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
others(4): Show 
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
7 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(4): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG03239.hp2
NA20805.hp2
intron_variant MODIFIER c.502+13410C>A
c.502+13410C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608461
chr5:156608675 T
T
G
G
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+13624T>G
c.502+13624T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608675
chr5:156608681 T
T
G
G
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+13630T>G
c.502+13630T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608681
chr5:156608708 C
C
T
T
3 a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02723.hp2
NA18906.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.502+13657C>T
c.502+13657C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608708
chr5:156608712 A
A
G
G
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+13661A>G
c.502+13661A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608712
chr5:156608849 C
C
A
A
60 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(57): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
60 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(57): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+13798C>A
c.502+13798C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608849
chr5:156608957 T
T
G
G
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+13906T>G
c.502+13906T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608957
chr5:156608985 T
T
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.502+13934T>G
c.502+13934T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156608985
chr5:156609029 A
A
G
G
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+13978A>G
c.502+13978A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609029
chr5:156609112 A
A
G
G
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+14061A>G
c.502+14061A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609112
chr5:156609179 G
G
A
A
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+14128G>A
c.502+14128G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609179
chr5:156609216 C
C
T
T
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+14165C>T
c.502+14165C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609216
chr5:156609413 G
G
A
A
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.502+14362G>A
c.502+14362G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609413
chr5:156609413 G
G
C
C
20 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(17): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0034g0118
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
20 HG01243.hp1
HG01256.hp2
HG01981.hp1
others(17): Show 
HG01243.hp1
HG01256.hp2
HG01981.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+14362G>C
c.502+14362G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609413
chr5:156609450 C
C
T
T
1 a0001c0004t0017g0007
a0001c0004t0017g0007
1 HG02630.hp2
HG02630.hp2
intron_variant MODIFIER c.502+14399C>T
c.502+14399C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609450
chr5:156609476 C
C
G
G
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.502+14425C>G
c.502+14425C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609476
chr5:156609691 A
A
G
G
19 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(16): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.502+14640A>G
c.502+14640A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609691
chr5:156609716 C
C
T
T
16 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
others(13): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
16 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(13): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA19043.hp2
NA20129.hp1
intron_variant MODIFIER c.502+14665C>T
c.502+14665C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609716
chr5:156609730 G
G
A
A
3 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0041g0028
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0041g0028
3 HG02615.hp1
HG02895.hp2
HG02897.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
intron_variant MODIFIER c.502+14679G>A
c.502+14679G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609730
chr5:156609880 T
T
C
C
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+14829T>C
c.502+14829T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609880
chr5:156609958 C
C
T
T
1 a0001c0002t0005g0082
a0001c0002t0005g0082
1 HG03490.hp2
HG03490.hp2
intron_variant MODIFIER c.502+14907C>T
c.502+14907C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609958
chr5:156609994 C
C
T
T
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.502+14943C>T
c.502+14943C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156609994
chr5:156610042 A
A
G
G
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+14991A>G
c.502+14991A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610042
chr5:156610061 C
C
T
T
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+15010C>T
c.502+15010C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610061
chr5:156610062 G
G
A
A
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.502+15011G>A
c.502+15011G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610062
chr5:156610148 G
G
GCT
GCT
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+15098_502+1509
others(6): Show 
c.502+15098_502+15099dupCT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156610148
chr5:156610210 G
G
T
T
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+15159G>T
c.502+15159G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610210
chr5:156610239 G
G
C
C
1 a0001c0001t0003g0018
a0001c0001t0003g0018
1 HG03490.hp1
HG03490.hp1
intron_variant MODIFIER c.502+15188G>C
c.502+15188G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610239
chr5:156610287 T
T
C
C
1 a0001c0002t0010g0094
a0001c0002t0010g0094
1 NA19010.hp2
NA19010.hp2
intron_variant MODIFIER c.502+15236T>C
c.502+15236T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610287
chr5:156610350 G
G
A
A
2 a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0008g0076
a0001c0002t0011g0090
2 NA19010.hp1
homoSapiens_chm13v2.hp1
NA19010.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.502+15299G>A
c.502+15299G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610350
chr5:156610403 T
T
A
A
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+15352T>A
c.502+15352T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610403
chr5:156610440 T
T
A
A
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.502+15389T>A
c.502+15389T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610440
chr5:156610452 A
A
G
G
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.502+15401A>G
c.502+15401A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610452
chr5:156610453 T
T
C
C
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+15402T>C
c.502+15402T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610453
chr5:156610482 G
G
A
A
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+15431G>A
c.502+15431G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610482
chr5:156610496 C
C
T
T
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.502+15445C>T
c.502+15445C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610496
chr5:156610505 G
G
A
A
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+15454G>A
c.502+15454G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610505
chr5:156610538 G
G
A
A
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.502+15487G>A
c.502+15487G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610538
chr5:156610595 G
G
A
A
81 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(78): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
81 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(78): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+15544G>A
c.502+15544G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610595
chr5:156610664 T
T
C
C
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+15613T>C
c.502+15613T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610664
chr5:156610676 G
G
A
A
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.502+15625G>A
c.502+15625G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610676
chr5:156610678 G
G
A
A
10 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
10 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(7): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.502+15627G>A
c.502+15627G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610678
chr5:156610727 A
A
G
G
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+15676A>G
c.502+15676A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610727
chr5:156610740 G
G
T
T
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+15689G>T
c.502+15689G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610740
chr5:156610756 C
C
G
G
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+15705C>G
c.502+15705C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610756
chr5:156610786 T
T
G
G
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+15735T>G
c.502+15735T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610786
chr5:156610831 C
C
A
A
1 a0001c0001t0031g0021
a0001c0001t0031g0021
1 HG01978.hp2
HG01978.hp2
intron_variant MODIFIER c.502+15780C>A
c.502+15780C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610831
chr5:156610837 A
A
G
G
23 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(20): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
23 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(20): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+15786A>G
c.502+15786A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610837
chr5:156610935 C
C
T
T
1 a0001c0002t0004g0088
a0001c0002t0004g0088
1 HG00639.hp1
HG00639.hp1
intron_variant MODIFIER c.502+15884C>T
c.502+15884C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156610935
chr5:156611064 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+16013A>G
c.502+16013A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611064
chr5:156611072 C
C
A
A
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+16021C>A
c.502+16021C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611072
chr5:156611107 C
C
T
T
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.502+16056C>T
c.502+16056C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611107
chr5:156611118 C
C
T
T
3 a0001c0001t0003g0119
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0003g0119
a0001c0001t0014g0132
a0001c0001t0016g0120
3 HG01070.hp1
HG01071.hp1
HG02735.hp2
HG01070.hp1
HG01071.hp1
HG02735.hp2
intron_variant MODIFIER c.502+16067C>T
c.502+16067C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611118
chr5:156611136 C
C
T
T
16 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
others(13): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
16 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(13): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA19043.hp2
NA20129.hp1
intron_variant MODIFIER c.502+16085C>T
c.502+16085C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611136
chr5:156611225 C
C
T
T
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+16174C>T
c.502+16174C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611225
chr5:156611265 T
T
C
C
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+16214T>C
c.502+16214T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611265
chr5:156611284 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+16233T>C
c.502+16233T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611284
chr5:156611341 C
C
A
A
16 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
others(13): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
16 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(13): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA19043.hp2
NA20129.hp1
intron_variant MODIFIER c.502+16290C>A
c.502+16290C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611341
chr5:156611443 C
C
T
T
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+16392C>T
c.502+16392C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611443
chr5:156611450 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.502+16399G>A
c.502+16399G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611450
chr5:156611475 T
T
G
G
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+16424T>G
c.502+16424T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611475
chr5:156611638 G
G
A
A
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+16587G>A
c.502+16587G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611638
chr5:156611653 A
A
T
T
1 a0001c0002t0002g0095
a0001c0002t0002g0095
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.502+16602A>T
c.502+16602A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611653
chr5:156611718 A
A
G
G
9 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(6): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0036g0043
a0001c0002t0052g0111
a0001c0006t0018g0145
9 HG02145.hp1
HG02257.hp1
HG02258.hp2
others(6): Show 
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19043.hp1
intron_variant MODIFIER c.502+16667A>G
c.502+16667A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611718
chr5:156611755 T
T
A
A
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+16704T>A
c.502+16704T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611755
chr5:156611811 A
A
G
G
3 a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
3 NA18990.hp2
NA19002.hp1
NA19010.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.502+16760A>G
c.502+16760A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611811
chr5:156611825 A
A
C
C
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+16774A>C
c.502+16774A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611825
chr5:156611981 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+16930A>G
c.502+16930A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156611981
chr5:156612038 T
T
C
C
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.502+16987T>C
c.502+16987T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612038
chr5:156612159 A
A
G
G
3 a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02723.hp2
NA18906.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.502+17108A>G
c.502+17108A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612159
chr5:156612305 A
A
G
G
2 a0001c0001t0001g0052
a0001c0002t0023g0112
a0001c0001t0001g0052
a0001c0002t0023g0112
2 HG02257.hp2
HG03098.hp1
HG02257.hp2
HG03098.hp1
intron_variant MODIFIER c.502+17254A>G
c.502+17254A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612305
chr5:156612381 A
A
G
G
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+17330A>G
c.502+17330A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612381
chr5:156612414 G
G
A
A
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+17363G>A
c.502+17363G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612414
chr5:156612420 T
T
C
C
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.502+17369T>C
c.502+17369T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612420
chr5:156612523 A
A
G
G
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+17472A>G
c.502+17472A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612523
chr5:156612525 T
T
C
C
1 a0001c0002t0002g0102
a0001c0002t0002g0102
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.502+17474T>C
c.502+17474T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612525
chr5:156612724 G
G
C
C
1 a0001c0002t0010g0005
a0001c0002t0010g0005
1 NA18953.hp1
NA18953.hp1
intron_variant MODIFIER c.502+17673G>C
c.502+17673G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612724
chr5:156612741 T
T
C
C
14 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
others(11): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0046g0121
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
14 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(11): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03490.hp2
NA18959.hp1
NA19043.hp2
intron_variant MODIFIER c.502+17690T>C
c.502+17690T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612741
chr5:156612767 T
T
C
C
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+17716T>C
c.502+17716T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612767
chr5:156612774 G
G
A
A
1 a0001c0001t0045g0137
a0001c0001t0045g0137
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.502+17723G>A
c.502+17723G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612774
chr5:156612823 C
C
T
T
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+17772C>T
c.502+17772C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612823
chr5:156612901 C
C
T
T
3 a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02723.hp2
NA18906.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.502+17850C>T
c.502+17850C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612901
chr5:156612923 A
A
T
T
1 a0001c0002t0002g0077
a0001c0002t0002g0077
1 NA18966.hp2
NA18966.hp2
intron_variant MODIFIER c.502+17872A>T
c.502+17872A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612923
chr5:156612978 G
G
A
A
28 a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0005g0129
others(25): Show 
a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
28 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(25): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02965.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.502+17927G>A
c.502+17927G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156612978
chr5:156613035 C
C
T
T
1 a0001c0002t0008g0101
a0001c0002t0008g0101
1 NA18959.hp2
NA18959.hp2
intron_variant MODIFIER c.502+17984C>T
c.502+17984C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156613035
chr5:156613284 T
T
C
C
3 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0049g0149
a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0049g0149
3 HG03098.hp2
HG03130.hp2
NA18522.hp2
HG03098.hp2
HG03130.hp2
NA18522.hp2
intron_variant MODIFIER c.502+18233T>C
c.502+18233T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156613284
chr5:156613399 C
C
T
T
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.502+18348C>T
c.502+18348C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156613399
chr5:156613480 T
T
G
G
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+18429T>G
c.502+18429T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156613480
chr5:156613531 G
G
T
T
4 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0037g0042
others(1): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0037g0042
a0001c0002t0058g0089
4 HG01109.hp2
HG02055.hp2
HG02145.hp2
others(1): Show 
HG01109.hp2
HG02055.hp2
HG02145.hp2
NA19043.hp2
intron_variant MODIFIER c.502+18480G>T
c.502+18480G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156613531
chr5:156613569 G
G
T
T
1 a0001c0001t0001g0050
a0001c0001t0001g0050
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.502+18518G>T
c.502+18518G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156613569
chr5:156613608 T
T
A
A
1 a0001c0001t0033g0141
a0001c0001t0033g0141
1 HG03225.hp2
HG03225.hp2
intron_variant MODIFIER c.502+18557T>A
c.502+18557T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156613608
chr5:156613924 C
C
G
G
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+18873C>G
c.502+18873C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156613924
chr5:156613949 GCTTC
GCTTC
G
G
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0042g0065
a0001c0002t0022g0029
9 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(6): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA19030.hp1
NA20300.hp2
intron_variant MODIFIER c.502+18919_502+1892
others(8): Show 
c.502+18919_502+18922delCTTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156613949
chr5:156614036 T
T
C
C
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.502+18985T>C
c.502+18985T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156614036
chr5:156614327 A
A
G
G
23 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(20): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
23 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(20): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+19276A>G
c.502+19276A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156614327
chr5:156614559 G
G
C
C
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+19508G>C
c.502+19508G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156614559
chr5:156614561 C
C
T
T
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+19510C>T
c.502+19510C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156614561
chr5:156614570 C
C
T
T
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.502+19519C>T
c.502+19519C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156614570
chr5:156614594 T
T
C
C
2 a0001c0001t0001g0025
a0001c0001t0025g0035
a0001c0001t0001g0025
a0001c0001t0025g0035
2 HG03139.hp1
NA20129.hp2
HG03139.hp1
NA20129.hp2
intron_variant MODIFIER c.502+19543T>C
c.502+19543T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156614594
chr5:156615576 G
G
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+20525G>C
c.502+20525G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156615576
chr5:156616111 CTCTT
CTCTT
C
C
28 a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0005g0129
others(25): Show 
a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
28 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(25): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02965.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.502+21066_502+2106
others(8): Show 
c.502+21066_502+21069delCTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156616111
chr5:156616197 A
A
G
G
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+21146A>G
c.502+21146A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616197
chr5:156616215 C
C
T
T
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.502+21164C>T
c.502+21164C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616215
chr5:156616244 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+21193T>C
c.502+21193T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616244
chr5:156616319 G
G
A
A
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+21268G>A
c.502+21268G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616319
chr5:156616368 T
T
C
C
3 a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02723.hp2
NA18906.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.502+21317T>C
c.502+21317T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616368
chr5:156616444 A
A
G
G
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+21393A>G
c.502+21393A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616444
chr5:156616576 G
G
A
A
59 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.502+21525G>A
c.502+21525G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616576
chr5:156616722 G
G
T
T
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.502+21671G>T
c.502+21671G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616722
chr5:156616781 A
A
G
G
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+21730A>G
c.502+21730A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616781
chr5:156616820 T
T
C
C
15 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(12): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0055g0091
15 HG00558.hp2
HG00639.hp2
HG02083.hp2
others(12): Show 
HG00558.hp2
HG00639.hp2
HG02083.hp2
HG02155.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.502+21769T>C
c.502+21769T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616820
chr5:156616847 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+21796T>C
c.502+21796T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616847
chr5:156616860 C
C
T
T
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+21809C>T
c.502+21809C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616860
chr5:156616965 G
G
A
A
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+21914G>A
c.502+21914G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616965
chr5:156616971 T
T
C
C
23 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(20): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
23 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(20): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+21920T>C
c.502+21920T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156616971
chr5:156617059 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+22008A>G
c.502+22008A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156617059
chr5:156617289 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+22238A>G
c.502+22238A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156617289
chr5:156617357 G
G
A
A
15 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(12): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
15 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(12): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+22306G>A
c.502+22306G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156617357
chr5:156617608 A
A
G
G
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+22557A>G
c.502+22557A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156617608
chr5:156617735 A
A
C
C
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+22684A>C
c.502+22684A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156617735
chr5:156617744 C
C
T
T
2 a0002c0003t0003g0140
a0002c0003t0017g0014
a0002c0003t0003g0140
a0002c0003t0017g0014
2 HG02559.hp1
HG04115.hp2
HG02559.hp1
HG04115.hp2
intron_variant MODIFIER c.502+22693C>T
c.502+22693C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156617744
chr5:156617852 GCTTTTCC
others(2): Show 
GCTTTTCCTC
G
G
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.502+22802_502+2281
others(13): Show 
c.502+22802_502+22810delCTTTTCCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156617852
chr5:156618076 T
T
C
C
19 a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
others(16): Show 
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
19 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(16): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03098.hp2
HG03130.hp2
HG03471.hp2
HG03490.hp2
NA18522.hp2
NA18959.hp1
NA19043.hp2
NA20129.hp1
intron_variant MODIFIER c.502+23025T>C
c.502+23025T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156618076
chr5:156618104 G
G
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+23053G>A
c.502+23053G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156618104
chr5:156618208 G
G
C
C
23 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(20): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
23 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(20): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+23157G>C
c.502+23157G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156618208
chr5:156618278 G
G
A
A
19 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(16): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.502+23227G>A
c.502+23227G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156618278
chr5:156618430 A
A
C
C
1 a0001c0002t0002g0102
a0001c0002t0002g0102
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.502+23379A>C
c.502+23379A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156618430
chr5:156618566 A
A
G
G
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+23515A>G
c.502+23515A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156618566
chr5:156618592 C
C
CA
CA
6 a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0002t0002g0087
others(3): Show 
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0002t0002g0087
a0001c0002t0004g0104
a0001c0002t0044g0026
a0001c0002t0054g0073
6 HG02056.hp2
HG03225.hp2
HG03471.hp2
others(3): Show 
HG02056.hp2
HG03225.hp2
HG03471.hp2
NA18990.hp1
NA19030.hp1
NA19057.hp1
intron_variant MODIFIER c.502+23561dupA
c.502+23561dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156618592
chr5:156618592 C
C
CAA
CAA
51 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(48): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0124
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
51 HG00558.hp2
HG00639.hp2
HG01109.hp1
others(48): Show 
HG00558.hp2
HG00639.hp2
HG01109.hp1
HG01109.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp2
NA18966.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+23560_502+2356
others(6): Show 
c.502+23560_502+23561dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156618592
chr5:156618592 C
C
CAAA
CAAA
15 a0001c0001t0001g0025
a0001c0001t0001g0122
a0001c0001t0003g0125
others(12): Show 
a0001c0001t0001g0025
a0001c0001t0001g0122
a0001c0001t0003g0125
a0001c0001t0007g0123
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0025g0035
a0001c0001t0035g0127
a0001c0002t0008g0101
a0001c0002t0050g0072
a0001c0002t0057g0110
15 HG01081.hp2
HG01169.hp2
HG01981.hp1
others(12): Show 
HG01081.hp2
HG01169.hp2
HG01981.hp1
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02622.hp1
HG02723.hp2
HG03139.hp1
NA18906.hp2
NA18959.hp2
NA18985.hp2
NA19011.hp2
NA19066.hp1
NA20129.hp2
intron_variant MODIFIER c.502+23559_502+2356
others(7): Show 
c.502+23559_502+23561dupAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156618592
chr5:156618592 CA
CA
C
C
5 a0001c0001t0003g0022
a0001c0001t0003g0119
a0001c0001t0003g0136
others(2): Show 
a0001c0001t0003g0022
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0002t0004g0114
a0001c0002t0061g0103
5 HG01261.hp1
HG02698.hp1
HG02735.hp2
others(2): Show 
HG01261.hp1
HG02698.hp1
HG02735.hp2
HG02897.hp2
NA19011.hp1
intron_variant MODIFIER c.502+23561delA
c.502+23561delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156618592
chr5:156618799 G
G
A
A
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.502+23748G>A
c.502+23748G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156618799
chr5:156619023 CT
CT
C
C
10 a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
10 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(7): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.502+23987delT
c.502+23987delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156619023
chr5:156619038 T
T
TC
TC
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+23988dupC
c.502+23988dupC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156619038
chr5:156619054 A
A
C
C
82 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+24003A>C
c.502+24003A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156619054
chr5:156619063 T
T
C
C
1 a0001c0002t0002g0087
a0001c0002t0002g0087
1 NA19057.hp1
NA19057.hp1
intron_variant MODIFIER c.502+24012T>C
c.502+24012T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156619063
chr5:156619236 A
A
G
G
5 a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
others(2): Show 
a0001c0001t0001g0023
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0039g0004
5 HG02698.hp1
HG02897.hp2
HG03704.hp2
others(2): Show 
HG02698.hp1
HG02897.hp2
HG03704.hp2
HG04115.hp1
NA20805.hp1
intron_variant MODIFIER c.502+24185A>G
c.502+24185A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156619236
chr5:156619274 C
C
T
T
1 a0001c0001t0003g0119
a0001c0001t0003g0119
1 HG02735.hp2
HG02735.hp2
intron_variant MODIFIER c.502+24223C>T
c.502+24223C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156619274
chr5:156619486 A
A
G
G
23 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(20): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
23 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(20): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+24435A>G
c.502+24435A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156619486
chr5:156619530 G
G
A
A
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.502+24479G>A
c.502+24479G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156619530
chr5:156619587 G
G
C
C
81 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(78): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
81 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(78): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+24536G>C
c.502+24536G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156619587
chr5:156619796 G
G
A
A
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+24745G>A
c.502+24745G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156619796
chr5:156620263 G
G
A
A
81 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(78): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
81 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(78): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.502+25212G>A
c.502+25212G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156620263
chr5:156620286 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+25235T>C
c.502+25235T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156620286
chr5:156620387 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+25336A>G
c.502+25336A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156620387
chr5:156620425 C
C
T
T
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.502+25374C>T
c.502+25374C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156620425
chr5:156620561 T
T
G
G
23 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(20): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
23 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(20): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.502+25510T>G
c.502+25510T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156620561
chr5:156620716 G
G
A
A
10 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0143
others(7): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0036g0043
a0001c0002t0052g0111
a0001c0006t0018g0145
10 HG02145.hp1
HG02257.hp1
HG02258.hp2
others(7): Show 
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp2
HG03139.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19043.hp1
intron_variant MODIFIER c.502+25665G>A
c.502+25665G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156620716
chr5:156620766 G
G
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.502+25715G>T
c.502+25715G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156620766
chr5:156621106 T
T
G
G
5 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(2): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0006t0018g0145
5 HG02145.hp1
HG02257.hp1
HG02559.hp2
others(2): Show 
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03579.hp1
NA19043.hp1
intron_variant MODIFIER c.502+26055T>G
c.502+26055T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156621106
chr5:156621389 C
C
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-26075C>A
c.503-26075C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156621389
chr5:156621516 C
C
T
T
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0004g0092
a0001c0002t0022g0029
9 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(6): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA18964.hp2
NA20300.hp2
intron_variant MODIFIER c.503-25948C>T
c.503-25948C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156621516
chr5:156621519 T
T
TA
TA
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.503-25935dupA
c.503-25935dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156621519
chr5:156621519 TA
TA
T
T
58 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
58 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(55): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.503-25935delA
c.503-25935delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156621519
chr5:156621534 C
C
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-25930C>T
c.503-25930C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156621534
chr5:156621539 T
T
G
G
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.503-25925T>G
c.503-25925T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156621539
chr5:156621549 G
G
A
A
2 a0001c0002t0002g0087
a0001c0002t0054g0073
a0001c0002t0002g0087
a0001c0002t0054g0073
2 NA18990.hp1
NA19057.hp1
NA18990.hp1
NA19057.hp1
intron_variant MODIFIER c.503-25915G>A
c.503-25915G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156621549
chr5:156621670 G
G
A
A
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.503-25794G>A
c.503-25794G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156621670
chr5:156621734 G
G
A
A
1 a0001c0002t0002g0070
a0001c0002t0002g0070
1 NA18985.hp1
NA18985.hp1
intron_variant MODIFIER c.503-25730G>A
c.503-25730G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156621734
chr5:156621822 C
C
T
T
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.503-25642C>T
c.503-25642C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156621822
chr5:156621993 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-25471A>G
c.503-25471A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156621993
chr5:156622318 G
G
A
A
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.503-25146G>A
c.503-25146G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156622318
chr5:156622435 A
A
AAAT
AAAT
28 a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0003g0119
others(25): Show 
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0003g0119
a0001c0001t0009g0067
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0002g0095
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0019g0031
a0001c0002t0024g0100
a0001c0002t0056g0096
a0001c0002t0057g0110
a0003c0005t0001g0148
28 HG01070.hp1
HG01071.hp1
HG01243.hp2
others(25): Show 
HG01070.hp1
HG01071.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01978.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03225.hp1
HG03239.hp1
HG03704.hp1
HG04115.hp1
NA18906.hp2
NA19030.hp2
intron_variant MODIFIER c.503-24986_503-2498
others(7): Show 
c.503-24986_503-24984dupAAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156622435
chr5:156622435 A
A
AAATAAT
AAATAAT
13 a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0005g0047
others(10): Show 
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0005g0047
a0001c0001t0016g0144
a0001c0001t0029g0024
a0001c0001t0037g0042
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0004g0088
a0001c0002t0013g0032
a0001c0002t0019g0033
a0001c0002t0058g0089
a0004c0007t0020g0012
13 HG00639.hp1
HG01109.hp2
HG01243.hp1
others(10): Show 
HG00639.hp1
HG01109.hp2
HG01243.hp1
HG01258.hp2
HG01261.hp2
HG01516.hp2
HG02145.hp2
HG03098.hp2
HG03130.hp1
NA18522.hp2
NA19043.hp2
NA19240.hp1
NA20129.hp1
intron_variant MODIFIER c.503-24989_503-2498
others(10): Show 
c.503-24989_503-24984dupAATAAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156622435
chr5:156622435 A
A
AAATAATA
others(2): Show 
AAATAATAAT
4 a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0044g0026
others(1): Show 
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0044g0026
a0001c0002t0059g0002
4 HG03130.hp2
HG03471.hp2
HG03490.hp2
others(1): Show 
HG03130.hp2
HG03471.hp2
HG03490.hp2
NA18959.hp1
intron_variant MODIFIER c.503-24992_503-2498
others(13): Show 
c.503-24992_503-24984dupAATAATAAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156622435
chr5:156622435 A
A
AAATAATA
others(5): Show 
AAATAATAATAAT
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.503-24995_503-2498
others(16): Show 
c.503-24995_503-24984dupAATAATAATAAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156622435
chr5:156622435 AAAT
AAAT
A
A
42 a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0018
a0001c0001t0003g0056
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0026g0016
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0077
a0001c0002t0002g0093
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0052g0111
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
42 HG00558.hp1
HG01070.hp2
HG01071.hp2
others(39): Show 
HG00558.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01981.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp1
HG03139.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA19002.hp2
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-24986_503-2498
others(7): Show 
c.503-24986_503-24984delAAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156622435
chr5:156622435 AAATAAT
AAATAAT
A
A
5 a0001c0001t0001g0143
a0001c0001t0006g0041
a0001c0001t0027g0011
others(2): Show 
a0001c0001t0001g0143
a0001c0001t0006g0041
a0001c0001t0027g0011
a0001c0001t0045g0137
a0001c0002t0023g0112
5 HG01891.hp1
HG03098.hp1
HG03579.hp1
others(2): Show 
HG01891.hp1
HG03098.hp1
HG03579.hp1
HG03579.hp2
NA19030.hp1
intron_variant MODIFIER c.503-24989_503-2498
others(10): Show 
c.503-24989_503-24984delAATAAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156622435
chr5:156622435 AAATAATA
others(2): Show 
AAATAATAAT
A
A
32 a0001c0001t0001g0015
a0001c0001t0001g0052
a0001c0001t0001g0122
others(29): Show 
a0001c0001t0001g0015
a0001c0001t0001g0052
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0024g0063
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0002c0003t0017g0014
32 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(29): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01978.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02965.hp2
HG03239.hp2
HG03453.hp1
HG04115.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20805.hp2
intron_variant MODIFIER c.503-24992_503-2498
others(13): Show 
c.503-24992_503-24984delAATAATAAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156622435
chr5:156622435 AAATAATA
others(14): Show 
AAATAATAATAATAATAATAAT
A
A
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-25004_503-2498
others(25): Show 
c.503-25004_503-24984delAATAATAATAATAATAATAAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156622435
chr5:156622540 AT
AT
A
A
58 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
58 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(55): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.503-24914delT
c.503-24914delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156622540
chr5:156622679 A
A
G
G
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.503-24785A>G
c.503-24785A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156622679
chr5:156622709 G
G
A
A
19 a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
others(16): Show 
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
19 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(16): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03098.hp2
HG03130.hp2
HG03471.hp2
HG03490.hp2
NA18522.hp2
NA18959.hp1
NA19043.hp2
NA20129.hp1
intron_variant MODIFIER c.503-24755G>A
c.503-24755G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156622709
chr5:156622852 G
G
A
A
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.503-24612G>A
c.503-24612G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156622852
chr5:156623042 G
G
T
T
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.503-24422G>T
c.503-24422G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156623042
chr5:156623100 G
G
A
A
80 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(77): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
80 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(77): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-24364G>A
c.503-24364G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156623100
chr5:156623212 T
T
G
G
3 a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0001t0009g0067
a0001c0002t0050g0072
a0001c0002t0057g0110
3 HG02055.hp1
HG02723.hp2
NA18906.hp2
HG02055.hp1
HG02723.hp2
NA18906.hp2
intron_variant MODIFIER c.503-24252T>G
c.503-24252T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156623212
chr5:156623255 A
A
G
G
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.503-24209A>G
c.503-24209A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156623255
chr5:156623436 G
G
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-24028G>A
c.503-24028G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156623436
chr5:156623737 A
A
G
G
22 a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
others(19): Show 
a0001c0001t0001g0117
a0001c0001t0001g0147
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
22 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(19): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.503-23727A>G
c.503-23727A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156623737
chr5:156623829 A
A
G
G
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-23635A>G
c.503-23635A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156623829
chr5:156623896 G
G
C
C
1 a0001c0001t0016g0144
a0001c0001t0016g0144
1 HG01243.hp1
HG01243.hp1
intron_variant MODIFIER c.503-23568G>C
c.503-23568G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156623896
chr5:156623905 G
G
A
A
1 a0001c0002t0028g0034
a0001c0002t0028g0034
1 HG02717.hp1
HG02717.hp1
intron_variant MODIFIER c.503-23559G>A
c.503-23559G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156623905
chr5:156624050 C
C
T
T
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-23414C>T
c.503-23414C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624050
chr5:156624145 G
G
T
T
1 a0001c0002t0056g0096
a0001c0002t0056g0096
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.503-23319G>T
c.503-23319G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624145
chr5:156624310 G
G
A
A
1 a0001c0002t0061g0103
a0001c0002t0061g0103
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.503-23154G>A
c.503-23154G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624310
chr5:156624398 G
G
A
A
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.503-23066G>A
c.503-23066G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624398
chr5:156624467 G
G
C
C
4 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0069
others(1): Show 
a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0002t0002g0069
a0001c0002t0004g0113
4 HG01070.hp2
HG01071.hp2
HG01169.hp1
others(1): Show 
HG01070.hp2
HG01071.hp2
HG01169.hp1
NA19240.hp2
intron_variant MODIFIER c.503-22997G>C
c.503-22997G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624467
chr5:156624500 G
G
T
T
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.503-22964G>T
c.503-22964G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624500
chr5:156624610 C
C
T
T
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-22854C>T
c.503-22854C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624610
chr5:156624726 T
T
A
A
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-22738T>A
c.503-22738T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624726
chr5:156624797 A
A
G
G
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.503-22667A>G
c.503-22667A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624797
chr5:156624804 T
T
C
C
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.503-22660T>C
c.503-22660T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624804
chr5:156624839 C
C
A
A
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.503-22625C>A
c.503-22625C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624839
chr5:156624886 C
C
A
A
80 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(77): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
80 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(77): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-22578C>A
c.503-22578C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624886
chr5:156624903 A
A
G
G
1 a0001c0001t0032g0020
a0001c0001t0032g0020
1 HG02056.hp1
HG02056.hp1
intron_variant MODIFIER c.503-22561A>G
c.503-22561A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156624903
chr5:156625080 C
C
T
T
1 a0001c0002t0004g0079
a0001c0002t0004g0079
1 NA20300.hp1
NA20300.hp1
intron_variant MODIFIER c.503-22384C>T
c.503-22384C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156625080
chr5:156625184 A
A
G
G
59 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
59 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(56): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.503-22280A>G
c.503-22280A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156625184
chr5:156625309 C
C
T
T
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.503-22155C>T
c.503-22155C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156625309
chr5:156625883 G
G
C
C
14 a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0001g0147
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01243.hp1
HG01243.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.503-21581G>C
c.503-21581G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156625883
chr5:156626202 C
C
T
T
16 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
others(13): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
16 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(13): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA19043.hp2
NA20129.hp1
intron_variant MODIFIER c.503-21262C>T
c.503-21262C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156626202
chr5:156626203 G
G
A
A
10 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0025g0035
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
10 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(7): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.503-21261G>A
c.503-21261G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156626203
chr5:156626327 G
G
A
A
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.503-21137G>A
c.503-21137G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156626327
chr5:156626788 TC
TC
T
T
68 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(65): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
68 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(65): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-20669delC
c.503-20669delC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156626788
chr5:156626875 C
C
T
T
10 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0025g0035
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
10 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(7): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.503-20589C>T
c.503-20589C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156626875
chr5:156626962 G
G
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-20502G>A
c.503-20502G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156626962
chr5:156627350 C
C
CAG
CAG
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.503-20103_503-2010
others(6): Show 
c.503-20103_503-20102dupAG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156627350
chr5:156627565 A
A
G
G
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.503-19899A>G
c.503-19899A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156627565
chr5:156627581 A
A
G
G
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-19883A>G
c.503-19883A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156627581
chr5:156627672 G
G
A
A
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.503-19792G>A
c.503-19792G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156627672
chr5:156627717 G
G
T
T
2 a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0012g0010
a0001c0001t0020g0017
2 HG01981.hp1
HG02622.hp1
HG01981.hp1
HG02622.hp1
intron_variant MODIFIER c.503-19747G>T
c.503-19747G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156627717
chr5:156627853 T
T
G
G
19 a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03239.hp2
NA19030.hp1
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-19611T>G
c.503-19611T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156627853
chr5:156628144 C
C
A
A
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.503-19320C>A
c.503-19320C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156628144
chr5:156628507 A
A
G
G
1 a0001c0002t0002g0095
a0001c0002t0002g0095
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.503-18957A>G
c.503-18957A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156628507
chr5:156628611 A
A
T
T
2 a0001c0001t0021g0046
a0001c0002t0024g0100
a0001c0001t0021g0046
a0001c0002t0024g0100
2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
intron_variant MODIFIER c.503-18853A>T
c.503-18853A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156628611
chr5:156628738 G
G
C
C
3 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
3 HG02145.hp1
HG02559.hp2
HG03579.hp1
HG02145.hp1
HG02559.hp2
HG03579.hp1
intron_variant MODIFIER c.503-18726G>C
c.503-18726G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156628738
chr5:156629253 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-18211T>C
c.503-18211T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156629253
chr5:156629377 A
A
G
G
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.503-18087A>G
c.503-18087A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156629377
chr5:156629855 C
C
CT
CT
31 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
others(28): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0146
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0012g0010
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0002t0002g0075
a0001c0002t0002g0102
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0003c0005t0001g0148
a0004c0007t0020g0012
31 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(28): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03490.hp2
NA18990.hp2
NA19002.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19090.hp2
NA20300.hp2
intron_variant MODIFIER c.503-17585dupT
c.503-17585dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156629855
chr5:156629879 TA
TA
T
T
9 a0001c0001t0003g0125
a0001c0001t0025g0035
a0001c0001t0030g0135
others(6): Show 
a0001c0001t0003g0125
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG03239.hp2
NA19066.hp2
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.503-17584delA
c.503-17584delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156629879
chr5:156629880 A
A
T
T
1 a0001c0001t0001g0015
a0001c0001t0001g0015
1 HG02129.hp2
HG02129.hp2
intron_variant MODIFIER c.503-17584A>T
c.503-17584A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156629880
chr5:156629969 G
G
C
C
19 a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03239.hp2
NA19030.hp1
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-17495G>C
c.503-17495G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156629969
chr5:156630007 A
A
G
G
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.503-17457A>G
c.503-17457A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156630007
chr5:156630110 G
G
A
A
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-17354G>A
c.503-17354G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156630110
chr5:156630354 T
T
A
A
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-17110T>A
c.503-17110T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156630354
chr5:156630427 C
C
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-17037C>T
c.503-17037C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156630427
chr5:156630501 G
G
A
A
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
7 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(4): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
intron_variant MODIFIER c.503-16963G>A
c.503-16963G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156630501
chr5:156630769 G
G
C
C
2 a0001c0001t0032g0020
a0001c0002t0005g0082
a0001c0001t0032g0020
a0001c0002t0005g0082
2 HG02056.hp1
HG03490.hp2
HG02056.hp1
HG03490.hp2
intron_variant MODIFIER c.503-16695G>C
c.503-16695G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156630769
chr5:156630775 G
G
A
A
2 a0001c0001t0001g0150
a0001c0002t0002g0061
a0001c0001t0001g0150
a0001c0002t0002g0061
2 HG03486.hp1
HG03486.hp2
HG03486.hp1
HG03486.hp2
intron_variant MODIFIER c.503-16689G>A
c.503-16689G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156630775
chr5:156630806 G
G
A
A
10 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0025g0035
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
10 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(7): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.503-16658G>A
c.503-16658G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156630806
chr5:156631032 A
A
G
G
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.503-16432A>G
c.503-16432A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156631032
chr5:156631153 C
C
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-16311C>T
c.503-16311C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156631153
chr5:156631154 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-16310A>G
c.503-16310A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156631154
chr5:156631460 C
C
CT
CT
69 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(66): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
69 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(66): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-15988dupT
c.503-15988dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156631460
chr5:156631477 A
A
T
T
109 a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0001g0025
others(106): Show 
a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
109 HG00558.hp2
HG00639.hp1
HG01070.hp1
others(106): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp1
NA18985.hp2
NA19002.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.503-15987A>T
c.503-15987A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156631477
chr5:156631491 T
T
G
G
10 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0025g0035
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
10 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(7): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.503-15973T>G
c.503-15973T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156631491
chr5:156631546 C
C
T
T
2 a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0004t0001g0009
a0001c0004t0017g0007
2 HG02630.hp2
HG02922.hp1
HG02630.hp2
HG02922.hp1
intron_variant MODIFIER c.503-15918C>T
c.503-15918C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156631546
chr5:156631679 G
G
A
A
11 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0025g0035
others(8): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
11 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(8): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19030.hp1
NA19066.hp2
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.503-15785G>A
c.503-15785G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156631679
chr5:156631702 A
A
G
G
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.503-15762A>G
c.503-15762A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156631702
chr5:156631907 A
A
G
G
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.503-15557A>G
c.503-15557A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156631907
chr5:156632003 A
A
C
C
19 a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03239.hp2
NA19030.hp1
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-15461A>C
c.503-15461A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156632003
chr5:156632343 A
A
AG
AG
19 a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03239.hp2
NA19030.hp1
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-15121_503-1512
others(5): Show 
c.503-15121_503-15120insG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156632343
chr5:156632835 G
G
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-14629G>T
c.503-14629G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156632835
chr5:156632867 T
T
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-14597T>G
c.503-14597T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156632867
chr5:156633008 CT
CT
C
C
149 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(146): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
149 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(146): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-14454delT
c.503-14454delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156633008
chr5:156633057 T
T
G
G
49 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
others(46): Show 
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
49 HG00558.hp2
HG00639.hp2
HG01109.hp2
others(46): Show 
HG00558.hp2
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp1
intron_variant MODIFIER c.503-14407T>G
c.503-14407T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156633057
chr5:156633087 A
A
G
G
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.503-14377A>G
c.503-14377A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156633087
chr5:156633208 T
T
G
G
19 a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
19 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(16): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03239.hp2
NA19030.hp1
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-14256T>G
c.503-14256T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156633208
chr5:156633360 G
G
A
A
18 a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
others(15): Show 
a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
18 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(15): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01981.hp1
HG02129.hp2
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03239.hp2
NA19066.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-14104G>A
c.503-14104G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156633360
chr5:156633469 G
G
A
A
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.503-13995G>A
c.503-13995G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156633469
chr5:156633683 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-13781T>C
c.503-13781T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156633683
chr5:156633725 TC
TC
T
T
9 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(6): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
9 HG01243.hp1
HG02615.hp1
HG02895.hp2
others(6): Show 
HG01243.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.503-13738delC
c.503-13738delC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156633725
chr5:156633761 G
G
A
A
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.503-13703G>A
c.503-13703G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156633761
chr5:156633833 A
A
T
T
1 a0001c0002t0015g0078
a0001c0002t0015g0078
1 HG02155.hp1
HG02155.hp1
intron_variant MODIFIER c.503-13631A>T
c.503-13631A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156633833
chr5:156633917 C
C
T
T
1 a0001c0001t0001g0117
a0001c0001t0001g0117
1 HG02717.hp2
HG02717.hp2
intron_variant MODIFIER c.503-13547C>T
c.503-13547C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156633917
chr5:156634142 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-13322T>C
c.503-13322T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156634142
chr5:156634458 GCAACAA
GCAACAA
G
G
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0042g0065
a0001c0002t0022g0029
9 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(6): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA19030.hp1
NA20300.hp2
intron_variant MODIFIER c.503-12987_503-1298
others(10): Show 
c.503-12987_503-12982delCAACAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156634458
chr5:156634542 G
G
T
T
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.503-12922G>T
c.503-12922G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156634542
chr5:156634570 C
C
G
G
68 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(65): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
68 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(65): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-12894C>G
c.503-12894C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156634570
chr5:156634717 G
G
C
C
68 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(65): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
68 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(65): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-12747G>C
c.503-12747G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156634717
chr5:156634948 A
A
C
C
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.503-12516A>C
c.503-12516A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156634948
chr5:156635084 G
G
A
A
1 a0001c0002t0004g0088
a0001c0002t0004g0088
1 HG00639.hp1
HG00639.hp1
intron_variant MODIFIER c.503-12380G>A
c.503-12380G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156635084
chr5:156635107 C
C
G
G
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.503-12357C>G
c.503-12357C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156635107
chr5:156635170 G
G
T
T
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.503-12294G>T
c.503-12294G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156635170
chr5:156635320 C
C
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-12144C>A
c.503-12144C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156635320
chr5:156635379 G
G
A
A
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.503-12085G>A
c.503-12085G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156635379
chr5:156635413 G
G
A
A
68 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(65): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
68 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(65): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-12051G>A
c.503-12051G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156635413
chr5:156635568 G
G
A
A
68 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(65): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
68 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(65): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-11896G>A
c.503-11896G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156635568
chr5:156635601 T
T
C
C
68 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(65): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
68 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(65): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-11863T>C
c.503-11863T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156635601
chr5:156635921 G
G
A
A
3 a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0001g0147
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02615.hp2
HG01243.hp2
HG02258.hp1
HG02615.hp2
intron_variant MODIFIER c.503-11543G>A
c.503-11543G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156635921
chr5:156635998 C
C
T
T
10 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0025g0035
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0025g0035
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
10 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(7): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.503-11466C>T
c.503-11466C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156635998
chr5:156636078 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-11386T>C
c.503-11386T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156636078
chr5:156636134 T
T
C
C
1 a0002c0003t0017g0014
a0002c0003t0017g0014
1 HG04115.hp2
HG04115.hp2
intron_variant MODIFIER c.503-11330T>C
c.503-11330T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156636134
chr5:156636284 T
T
A
A
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.503-11180T>A
c.503-11180T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156636284
chr5:156636394 G
G
T
T
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
8 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(5): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-11070G>T
c.503-11070G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156636394
chr5:156636491 A
A
G
G
1 a0001c0002t0004g0114
a0001c0002t0004g0114
1 HG01261.hp1
HG01261.hp1
intron_variant MODIFIER c.503-10973A>G
c.503-10973A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156636491
chr5:156636563 A
A
G
G
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0042g0065
a0001c0002t0022g0029
9 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(6): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA19030.hp1
NA20300.hp2
intron_variant MODIFIER c.503-10901A>G
c.503-10901A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156636563
chr5:156636593 A
A
G
G
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.503-10871A>G
c.503-10871A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156636593
chr5:156636645 G
G
A
A
6 a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0001g0052
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02257.hp2
HG02698.hp2
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.503-10819G>A
c.503-10819G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156636645
chr5:156636771 A
A
G
G
49 a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
others(46): Show 
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
49 HG00558.hp2
HG00639.hp2
HG01109.hp2
others(46): Show 
HG00558.hp2
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp1
intron_variant MODIFIER c.503-10693A>G
c.503-10693A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156636771
chr5:156636780 T
T
A
A
2 a0001c0001t0047g0003
a0001c0002t0044g0026
a0001c0001t0047g0003
a0001c0002t0044g0026
2 HG03471.hp2
NA20129.hp1
HG03471.hp2
NA20129.hp1
intron_variant MODIFIER c.503-10684T>A
c.503-10684T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156636780
chr5:156636787 A
A
C
C
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0042g0065
a0001c0002t0022g0029
9 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(6): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA19030.hp1
NA20300.hp2
intron_variant MODIFIER c.503-10677A>C
c.503-10677A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156636787
chr5:156636907 A
A
G
G
82 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
82 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(79): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-10557A>G
c.503-10557A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156636907
chr5:156637017 C
C
A
A
1 a0001c0002t0008g0105
a0001c0002t0008g0105
1 NA19090.hp1
NA19090.hp1
intron_variant MODIFIER c.503-10447C>A
c.503-10447C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156637017
chr5:156637283 A
A
G
G
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.503-10181A>G
c.503-10181A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156637283
chr5:156637308 A
A
G
G
2 a0002c0003t0003g0140
a0002c0003t0017g0014
a0002c0003t0003g0140
a0002c0003t0017g0014
2 HG02559.hp1
HG04115.hp2
HG02559.hp1
HG04115.hp2
intron_variant MODIFIER c.503-10156A>G
c.503-10156A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156637308
chr5:156637457 A
A
G
G
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0042g0065
a0001c0002t0022g0029
9 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(6): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
NA19030.hp1
NA20300.hp2
intron_variant MODIFIER c.503-10007A>G
c.503-10007A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156637457
chr5:156637545 T
T
C
C
1 a0001c0002t0010g0001
a0001c0002t0010g0001
1 NA18990.hp2
NA18990.hp2
intron_variant MODIFIER c.503-9919T>C
c.503-9919T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156637545
chr5:156637650 A
A
G
G
11 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(8): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0042g0065
a0001c0002t0022g0029
a0001c0002t0060g0074
11 HG01981.hp1
HG02622.hp1
HG02717.hp2
others(8): Show 
HG01981.hp1
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
NA19030.hp1
NA20300.hp2
intron_variant MODIFIER c.503-9814A>G
c.503-9814A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156637650
chr5:156637697 AG
AG
A
A
5 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
others(2): Show 
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
5 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(2): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.503-9762delG
c.503-9762delG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156637697
chr5:156637882 A
A
C
C
48 a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
others(45): Show 
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
48 HG00558.hp2
HG00639.hp2
HG01109.hp2
others(45): Show 
HG00558.hp2
HG00639.hp2
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp1
intron_variant MODIFIER c.503-9582A>C
c.503-9582A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156637882
chr5:156637953 C
C
T
T
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.503-9511C>T
c.503-9511C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156637953
chr5:156638064 C
C
G
G
1 a0001c0002t0002g0102
a0001c0002t0002g0102
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.503-9400C>G
c.503-9400C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156638064
chr5:156638186 G
G
C
C
83 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0068
others(80): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(80): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-9278G>C
c.503-9278G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156638186
chr5:156638405 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.503-9059G>A
c.503-9059G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156638405
chr5:156638495 T
T
A
A
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.503-8969T>A
c.503-8969T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156638495
chr5:156638536 C
C
T
T
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.503-8928C>T
c.503-8928C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156638536
chr5:156638556 A
A
C
C
2 a0001c0001t0001g0054
a0001c0001t0033g0141
a0001c0001t0001g0054
a0001c0001t0033g0141
2 HG02622.hp2
HG03225.hp2
HG02622.hp2
HG03225.hp2
intron_variant MODIFIER c.503-8908A>C
c.503-8908A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156638556
chr5:156638583 T
T
C
C
49 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0068
others(46): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
49 HG01081.hp2
HG01109.hp1
HG01109.hp2
others(46): Show 
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02129.hp2
HG02145.hp2
HG02257.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19066.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-8881T>C
c.503-8881T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156638583
chr5:156638636 A
A
G
G
31 a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
others(28): Show 
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0037g0042
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
31 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(28): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02257.hp1
HG02622.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03471.hp2
HG03490.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
intron_variant MODIFIER c.503-8828A>G
c.503-8828A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156638636
chr5:156639038 TATC
TATC
T
T
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
a0001c0002t0060g0074
9 HG01981.hp1
HG02717.hp2
HG02809.hp1
others(6): Show 
HG01981.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-8423_503-8421d
others(5): Show 
c.503-8423_503-8421delCAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156639038
chr5:156639217 G
G
C
C
92 a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0069
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
92 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(89): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-8247G>C
c.503-8247G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156639217
chr5:156639405 C
C
T
T
9 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.503-8059C>T
c.503-8059C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156639405
chr5:156639440 T
T
G
G
1 a0001c0001t0007g0126
a0001c0001t0007g0126
1 HG02155.hp2
HG02155.hp2
intron_variant MODIFIER c.503-8024T>G
c.503-8024T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156639440
chr5:156639450 T
T
C
C
67 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(64): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0006t0018g0145
a0004c0007t0020g0012
67 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(64): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-8014T>C
c.503-8014T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156639450
chr5:156639461 C
C
T
T
18 a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
others(15): Show 
a0001c0001t0001g0015
a0001c0001t0001g0117
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0022g0064
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0051g0099
a0001c0002t0060g0074
18 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(15): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG01981.hp1
HG02129.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03239.hp2
NA19066.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-8003C>T
c.503-8003C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156639461
chr5:156639541 A
A
G
G
11 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(8): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(8): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp2
NA19240.hp1
intron_variant MODIFIER c.503-7923A>G
c.503-7923A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156639541
chr5:156639581 G
G
A
A
3 a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0004t0017g0007
3 HG02630.hp2
HG02922.hp1
NA18522.hp1
HG02630.hp2
HG02922.hp1
NA18522.hp1
intron_variant MODIFIER c.503-7883G>A
c.503-7883G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156639581
chr5:156639606 C
C
T
T
9 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.503-7858C>T
c.503-7858C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156639606
chr5:156640042 G
G
A
A
1 a0001c0001t0003g0125
a0001c0001t0003g0125
1 HG01081.hp2
HG01081.hp2
intron_variant MODIFIER c.503-7422G>A
c.503-7422G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156640042
chr5:156640304 C
C
G
G
1 a0001c0001t0007g0126
a0001c0001t0007g0126
1 HG02155.hp2
HG02155.hp2
intron_variant MODIFIER c.503-7160C>G
c.503-7160C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156640304
chr5:156640343 A
A
G
G
5 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
others(2): Show 
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
5 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(2): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.503-7121A>G
c.503-7121A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156640343
chr5:156640414 G
G
A
A
1 a0001c0002t0010g0001
a0001c0002t0010g0001
1 NA18990.hp2
NA18990.hp2
intron_variant MODIFIER c.503-7050G>A
c.503-7050G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156640414
chr5:156640430 C
C
T
T
9 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.503-7034C>T
c.503-7034C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156640430
chr5:156640433 T
T
TAAATAAA
others(35): Show 
TAAATAAATATTGTAAATATTGTAAATTTTAAAAAAATTTAAA
9 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.503-7031_503-7030i
others(44): Show 
c.503-7031_503-7030insAAATAAATATTGTAAATATTGTAAATTT
TAAAAAAATTTAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156640433
chr5:156640434 T
T
A
A
9 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.503-7030T>A
c.503-7030T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156640434
chr5:156640437 T
T
A
A
9 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.503-7027T>A
c.503-7027T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156640437
chr5:156640438 T
T
A
A
9 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.503-7026T>A
c.503-7026T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156640438
chr5:156640557 T
T
C
C
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.503-6907T>C
c.503-6907T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156640557
chr5:156640672 A
A
G
G
66 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
others(63): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0006t0018g0145
a0004c0007t0020g0012
66 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(63): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-6792A>G
c.503-6792A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156640672
chr5:156640951 G
G
A
A
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.503-6513G>A
c.503-6513G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156640951
chr5:156641118 T
T
C
C
14 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
others(11): Show 
a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0008g0006
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0006t0018g0145
a0004c0007t0020g0012
14 HG01261.hp2
HG01516.hp2
HG01978.hp2
others(11): Show 
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02257.hp1
HG02723.hp2
HG03098.hp2
HG03130.hp2
NA18522.hp2
NA18906.hp2
NA18959.hp1
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.503-6346T>C
c.503-6346T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156641118
chr5:156641133 C
C
A
A
83 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0068
others(80): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(80): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-6331C>A
c.503-6331C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156641133
chr5:156641201 A
A
G
G
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.503-6263A>G
c.503-6263A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156641201
chr5:156641348 A
A
G
G
1 a0001c0002t0002g0107
a0001c0002t0002g0107
1 HG02129.hp1
HG02129.hp1
intron_variant MODIFIER c.503-6116A>G
c.503-6116A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156641348
chr5:156641350 A
A
G
G
1 a0001c0001t0031g0021
a0001c0001t0031g0021
1 HG01978.hp2
HG01978.hp2
intron_variant MODIFIER c.503-6114A>G
c.503-6114A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156641350
chr5:156641560 A
A
G
G
10 a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
others(7): Show 
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01243.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01243.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.503-5904A>G
c.503-5904A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156641560
chr5:156641585 A
A
G
G
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
a0001c0002t0060g0074
9 HG01981.hp1
HG02717.hp2
HG02809.hp1
others(6): Show 
HG01981.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-5879A>G
c.503-5879A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156641585
chr5:156641619 A
A
G
G
3 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0042g0065
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0042g0065
3 HG02809.hp1
HG02922.hp2
HG02970.hp1
HG02809.hp1
HG02922.hp2
HG02970.hp1
intron_variant MODIFIER c.503-5845A>G
c.503-5845A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156641619
chr5:156641907 T
T
C
C
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
a0001c0002t0060g0074
9 HG01981.hp1
HG02717.hp2
HG02809.hp1
others(6): Show 
HG01981.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-5557T>C
c.503-5557T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156641907
chr5:156642236 T
T
C
C
23 a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
others(20): Show 
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
23 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(20): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02615.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.503-5228T>C
c.503-5228T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156642236
chr5:156642272 G
G
T
T
9 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.503-5192G>T
c.503-5192G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156642272
chr5:156642432 T
T
C
C
81 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0068
others(78): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
81 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(78): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.503-5032T>C
c.503-5032T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156642432
chr5:156642461 C
C
CT
CT
39 a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0001g0052
others(36): Show 
a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0116
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0070
a0001c0002t0004g0079
a0001c0002t0004g0104
a0001c0002t0004g0113
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0004t0001g0009
a0001c0006t0018g0145
a0003c0005t0001g0148
a0004c0007t0020g0012
39 HG01070.hp1
HG01070.hp2
HG01071.hp1
others(36): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02622.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02897.hp2
HG02922.hp1
HG03139.hp2
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03704.hp1
HG03704.hp2
NA18522.hp1
NA18959.hp1
NA18985.hp1
NA19010.hp1
NA19030.hp2
NA19043.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.503-4979dupT
c.503-4979dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156642461
chr5:156642461 C
C
CTT
CTT
8 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0042g0065
a0001c0001t0047g0003
a0001c0002t0044g0026
a0001c0002t0060g0074
8 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(5): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03471.hp2
NA20129.hp1
intron_variant MODIFIER c.503-4980_503-4979d
others(4): Show 
c.503-4980_503-4979dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156642461
chr5:156642461 CT
CT
C
C
42 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0122
others(39): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0122
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0002g0069
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
42 HG00558.hp2
HG00639.hp2
HG01243.hp1
others(39): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG03579.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
intron_variant MODIFIER c.503-4979delT
c.503-4979delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156642461
chr5:156642461 CTT
CTT
C
C
10 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0012g0059
others(7): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0012g0059
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
10 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(7): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG02895.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.503-4980_503-4979d
others(4): Show 
c.503-4980_503-4979delTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156642461
chr5:156642700 G
G
A
A
40 a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
others(37): Show 
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0006t0018g0145
40 HG00558.hp2
HG00639.hp2
HG01243.hp1
others(37): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01891.hp1
HG01981.hp1
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02723.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp1
HG03579.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.503-4764G>A
c.503-4764G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156642700
chr5:156642721 C
C
T
T
1 a0001c0002t0015g0086
a0001c0002t0015g0086
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.503-4743C>T
c.503-4743C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156642721
chr5:156642806 G
G
A
A
2 a0001c0001t0047g0003
a0001c0002t0044g0026
a0001c0001t0047g0003
a0001c0002t0044g0026
2 HG03471.hp2
NA20129.hp1
HG03471.hp2
NA20129.hp1
intron_variant MODIFIER c.503-4658G>A
c.503-4658G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156642806
chr5:156643017 G
G
T
T
1 a0001c0001t0001g0019
a0001c0001t0001g0019
1 HG01081.hp1
HG01081.hp1
intron_variant MODIFIER c.503-4447G>T
c.503-4447G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156643017
chr5:156643024 G
G
GT
GT
5 a0001c0001t0013g0057
a0001c0001t0039g0004
a0001c0002t0002g0070
others(2): Show 
a0001c0001t0013g0057
a0001c0001t0039g0004
a0001c0002t0002g0070
a0001c0002t0002g0109
a0001c0002t0015g0078
5 HG02071.hp1
HG02155.hp1
HG03225.hp1
others(2): Show 
HG02071.hp1
HG02155.hp1
HG03225.hp1
HG04115.hp1
NA18985.hp1
intron_variant MODIFIER c.503-4429dupT
c.503-4429dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156643024
chr5:156643025 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-4439T>C
c.503-4439T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156643025
chr5:156643040 G
G
GT
GT
139 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(136): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
139 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(136): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-4415dupT
c.503-4415dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156643040
chr5:156643060 T
T
C
C
2 a0001c0001t0001g0019
a0001c0002t0015g0081
a0001c0001t0001g0019
a0001c0002t0015g0081
2 HG01081.hp1
NA19003.hp2
HG01081.hp1
NA19003.hp2
intron_variant MODIFIER c.503-4404T>C
c.503-4404T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156643060
chr5:156643194 G
G
A
A
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.503-4270G>A
c.503-4270G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156643194
chr5:156643340 G
G
C
C
9 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0143
others(6): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0036g0043
a0001c0002t0002g0069
a0001c0002t0052g0111
9 HG02145.hp1
HG02258.hp2
HG02559.hp2
others(6): Show 
HG02145.hp1
HG02258.hp2
HG02559.hp2
HG03139.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19240.hp2
intron_variant MODIFIER c.503-4124G>C
c.503-4124G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156643340
chr5:156643510 T
T
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-3954T>C
c.503-3954T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156643510
chr5:156643549 G
G
A
A
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.503-3915G>A
c.503-3915G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156643549
chr5:156643579 C
C
A
A
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.503-3885C>A
c.503-3885C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156643579
chr5:156643683 T
T
G
G
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.503-3781T>G
c.503-3781T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156643683
chr5:156643955 C
C
T
T
87 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(84): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
87 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(84): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-3509C>T
c.503-3509C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156643955
chr5:156643983 A
A
G
G
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.503-3481A>G
c.503-3481A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156643983
chr5:156644413 G
G
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-3051G>A
c.503-3051G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156644413
chr5:156644926 AT
AT
A
A
85 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(82): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
85 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(82): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-2522delT
c.503-2522delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chr5 156644926
chr5:156645534 G
G
A
A
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.503-1930G>A
c.503-1930G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156645534
chr5:156645720 T
T
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-1744T>C
c.503-1744T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156645720
chr5:156645751 T
T
C
C
87 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(84): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
87 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(84): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-1713T>C
c.503-1713T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156645751
chr5:156645810 T
T
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-1654T>A
c.503-1654T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156645810
chr5:156646024 A
A
G
G
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-1440A>G
c.503-1440A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156646024
chr5:156646176 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-1288T>C
c.503-1288T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156646176
chr5:156646205 T
T
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-1259T>C
c.503-1259T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156646205
chr5:156646556 A
A
G
G
2 a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0129
a0001c0001t0005g0130
2 NA19009.hp1
NA19057.hp2
NA19009.hp1
NA19057.hp2
intron_variant MODIFIER c.503-908A>G
c.503-908A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156646556
chr5:156646562 A
A
G
G
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.503-902A>G
c.503-902A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156646562
chr5:156646566 A
A
C
C
35 a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
others(32): Show 
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
35 HG00558.hp2
HG00639.hp2
HG01243.hp1
others(32): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.503-898A>C
c.503-898A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156646566
chr5:156646648 G
G
A
A
1 a0001c0001t0001g0019
a0001c0001t0001g0019
1 HG01081.hp1
HG01081.hp1
intron_variant MODIFIER c.503-816G>A
c.503-816G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156646648
chr5:156646654 C
C
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.503-810C>T
c.503-810C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156646654
chr5:156647129 G
G
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-335G>A
c.503-335G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156647129
chr5:156647240 T
T
G
G
26 a0001c0001t0001g0019
a0001c0001t0001g0045
a0001c0001t0001g0133
others(23): Show 
a0001c0001t0001g0019
a0001c0001t0001g0045
a0001c0001t0001g0133
a0001c0001t0003g0018
a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0054g0073
a0001c0002t0061g0103
a0002c0003t0003g0140
a0002c0003t0017g0014
26 HG00558.hp1
HG01081.hp1
HG01978.hp1
others(23): Show 
HG00558.hp1
HG01081.hp1
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02155.hp1
HG02559.hp1
HG02809.hp2
HG03490.hp1
HG04115.hp2
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19057.hp1
NA19090.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.503-224T>G
c.503-224T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156647240
chr5:156647265 A
A
T
T
1 a0001c0002t0002g0102
a0001c0002t0002g0102
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.503-199A>T
c.503-199A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 6/8 chr5 156647265
chr5:156647644 TAAATTGA
TAAATTGA
T
T
131 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(128): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
131 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(128): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+111_575+117del
others(7): Show 
c.575+111_575+117delATTGAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156647644
chr5:156647703 A
A
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+167A>C
c.575+167A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156647703
chr5:156648011 A
A
G
G
1 a0001c0002t0004g0079
a0001c0002t0004g0079
1 NA20300.hp1
NA20300.hp1
intron_variant MODIFIER c.575+475A>G
c.575+475A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156648011
chr5:156648011 A
A
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+475A>T
c.575+475A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156648011
chr5:156648200 A
A
G
G
91 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(88): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
91 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(88): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+664A>G
c.575+664A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156648200
chr5:156648264 C
C
CTT
CTT
36 a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0122
others(33): Show 
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0036g0043
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0060g0074
36 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(33): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03139.hp2
HG03453.hp1
HG03579.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20300.hp2
intron_variant MODIFIER c.575+737_575+738dup
others(2): Show 
c.575+737_575+738dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156648264
chr5:156648264 C
C
CTTT
CTTT
103 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
103 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(100): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+736_575+738dup
others(3): Show 
c.575+736_575+738dupTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156648264
chr5:156648370 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+834T>C
c.575+834T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156648370
chr5:156648385 A
A
G
G
2 a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0010g0001
a0001c0002t0010g0108
2 NA18990.hp2
NA19002.hp1
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.575+849A>G
c.575+849A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156648385
chr5:156648454 G
G
T
T
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.575+918G>T
c.575+918G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156648454
chr5:156648543 C
C
G
G
1 a0001c0002t0004g0088
a0001c0002t0004g0088
1 HG00639.hp1
HG00639.hp1
intron_variant MODIFIER c.575+1007C>G
c.575+1007C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156648543
chr5:156648872 C
C
T
T
131 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(128): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
131 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(128): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+1336C>T
c.575+1336C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156648872
chr5:156648983 G
G
A
A
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.575+1447G>A
c.575+1447G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156648983
chr5:156649041 A
A
G
G
131 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(128): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
131 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(128): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+1505A>G
c.575+1505A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649041
chr5:156649070 C
C
T
T
131 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(128): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
131 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(128): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+1534C>T
c.575+1534C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649070
chr5:156649189 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+1653A>G
c.575+1653A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649189
chr5:156649323 A
A
C
C
131 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(128): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
131 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(128): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+1787A>C
c.575+1787A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649323
chr5:156649324 C
C
G
G
1 a0001c0002t0015g0081
a0001c0002t0015g0081
1 NA19003.hp2
NA19003.hp2
intron_variant MODIFIER c.575+1788C>G
c.575+1788C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649324
chr5:156649326 G
G
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+1790G>A
c.575+1790G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649326
chr5:156649457 A
A
G
G
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+1921A>G
c.575+1921A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649457
chr5:156649670 A
A
G
G
119 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(116): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
119 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(116): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+2134A>G
c.575+2134A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649670
chr5:156649699 G
G
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+2163G>T
c.575+2163G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649699
chr5:156649725 A
A
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+2189A>T
c.575+2189A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649725
chr5:156649745 A
A
G
G
1 a0001c0002t0052g0111
a0001c0002t0052g0111
1 HG03453.hp2
HG03453.hp2
intron_variant MODIFIER c.575+2209A>G
c.575+2209A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649745
chr5:156649875 T
T
A
A
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.575+2339T>A
c.575+2339T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649875
chr5:156649876 T
T
A
A
25 a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
others(22): Show 
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
25 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(22): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+2340T>A
c.575+2340T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156649876
chr5:156650090 G
G
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+2554G>A
c.575+2554G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156650090
chr5:156650094 G
G
A
A
40 a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
others(37): Show 
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0006t0018g0145
40 HG00558.hp2
HG00639.hp2
HG01243.hp1
others(37): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01891.hp1
HG01981.hp1
HG02055.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02723.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp1
HG03579.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.575+2558G>A
c.575+2558G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156650094
chr5:156650101 A
A
G
G
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+2565A>G
c.575+2565A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156650101
chr5:156650122 T
T
C
C
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.575+2586T>C
c.575+2586T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156650122
chr5:156650134 A
A
G
G
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.575+2598A>G
c.575+2598A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156650134
chr5:156650610 GTTAAC
GTTAAC
G
G
34 a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
others(31): Show 
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
34 HG00558.hp2
HG00639.hp2
HG01243.hp1
others(31): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01891.hp1
HG01981.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.575+3079_575+3083d
others(7): Show 
c.575+3079_575+3083delCTTAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156650610
chr5:156650620 G
G
T
T
1 a0001c0002t0053g0085
a0001c0002t0053g0085
1 HG03453.hp1
HG03453.hp1
intron_variant MODIFIER c.575+3084G>T
c.575+3084G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156650620
chr5:156650672 G
G
T
T
15 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(12): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0042g0065
a0001c0002t0022g0029
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0006t0018g0145
15 HG02055.hp1
HG02257.hp1
HG02622.hp1
others(12): Show 
HG02055.hp1
HG02257.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA20300.hp2
intron_variant MODIFIER c.575+3136G>T
c.575+3136G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156650672
chr5:156650687 G
G
C
C
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+3151G>C
c.575+3151G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156650687
chr5:156650867 C
C
T
T
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+3331C>T
c.575+3331C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156650867
chr5:156650941 G
G
A
A
1 a0001c0002t0005g0097
a0001c0002t0005g0097
1 NA20805.hp2
NA20805.hp2
intron_variant MODIFIER c.575+3405G>A
c.575+3405G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156650941
chr5:156650981 C
C
A
A
88 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(85): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
88 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(85): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+3445C>A
c.575+3445C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156650981
chr5:156651218 G
G
A
A
1 a0001c0001t0005g0130
a0001c0001t0005g0130
1 NA19057.hp2
NA19057.hp2
intron_variant MODIFIER c.575+3682G>A
c.575+3682G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156651218
chr5:156651292 C
C
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+3756C>T
c.575+3756C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156651292
chr5:156651453 A
A
G
G
125 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
125 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(122): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+3917A>G
c.575+3917A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156651453
chr5:156651548 G
G
A
A
125 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
125 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(122): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+4012G>A
c.575+4012G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156651548
chr5:156651649 G
G
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.575+4113G>C
c.575+4113G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156651649
chr5:156651760 G
G
A
A
2 a0001c0001t0003g0056
a0001c0001t0016g0120
a0001c0001t0003g0056
a0001c0001t0016g0120
2 HG01070.hp2
HG01071.hp1
HG01070.hp2
HG01071.hp1
intron_variant MODIFIER c.575+4224G>A
c.575+4224G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156651760
chr5:156651792 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.575+4256G>A
c.575+4256G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156651792
chr5:156652023 T
T
C
C
87 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(84): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
87 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(84): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+4487T>C
c.575+4487T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652023
chr5:156652157 G
G
A
A
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+4621G>A
c.575+4621G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652157
chr5:156652162 G
G
A
A
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.575+4626G>A
c.575+4626G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652162
chr5:156652332 AG
AG
A
A
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+4797delG
c.575+4797delG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652332
chr5:156652333 G
G
A
A
135 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(132): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
135 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(132): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+4797G>A
c.575+4797G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652333
chr5:156652431 G
G
C
C
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.575+4895G>C
c.575+4895G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652431
chr5:156652438 G
G
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+4902G>A
c.575+4902G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652438
chr5:156652501 TACACACA
others(5): Show 
TACACACATACAC
T
T
23 a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
others(20): Show 
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
23 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(20): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02615.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.575+4979_575+4990d
others(14): Show 
c.575+4979_575+4990delCACACATACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156652501
chr5:156652599 C
C
T
T
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+5063C>T
c.575+5063C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652599
chr5:156652600 G
G
A
A
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+5064G>A
c.575+5064G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652600
chr5:156652654 C
C
G
G
1 a0001c0001t0013g0057
a0001c0001t0013g0057
1 HG03225.hp1
HG03225.hp1
intron_variant MODIFIER c.575+5118C>G
c.575+5118C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652654
chr5:156652812 T
T
C
C
124 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(121): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
124 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(121): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+5276T>C
c.575+5276T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652812
chr5:156652885 G
G
A
A
6 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(3): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0042g0065
a0001c0002t0060g0074
6 HG02717.hp2
HG02809.hp1
HG02895.hp1
others(3): Show 
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
intron_variant MODIFIER c.575+5349G>A
c.575+5349G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652885
chr5:156652889 G
G
A
A
1 a0001c0002t0015g0086
a0001c0002t0015g0086
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.575+5353G>A
c.575+5353G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652889
chr5:156652895 A
A
G
G
6 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0002g0093
others(3): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0002g0093
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
6 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(3): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA18953.hp2
NA19043.hp1
intron_variant MODIFIER c.575+5359A>G
c.575+5359A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652895
chr5:156652947 A
A
G
G
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+5411A>G
c.575+5411A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156652947
chr5:156653234 T
T
G
G
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
a0001c0002t0060g0074
9 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(6): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+5698T>G
c.575+5698T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156653234
chr5:156653286 T
T
G
G
139 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(136): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
139 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(136): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+5750T>G
c.575+5750T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156653286
chr5:156653299 ACTT
ACTT
A
A
122 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(119): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
122 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(119): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+5768_575+5770d
others(5): Show 
c.575+5768_575+5770delTTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156653299
chr5:156653467 A
A
G
G
131 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(128): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
131 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(128): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+5931A>G
c.575+5931A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156653467
chr5:156653476 C
C
T
T
1 a0001c0002t0015g0081
a0001c0002t0015g0081
1 NA19003.hp2
NA19003.hp2
intron_variant MODIFIER c.575+5940C>T
c.575+5940C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156653476
chr5:156653493 C
C
CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
24 a0001c0001t0001g0122
a0001c0001t0006g0041
a0001c0001t0007g0123
others(21): Show 
a0001c0001t0001g0122
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0021g0027
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0055g0091
24 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(21): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG01981.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA19003.hp1
NA19011.hp2
NA19090.hp1
NA19240.hp1
intron_variant MODIFIER c.575+5961_575+5972d
others(14): Show 
c.575+5961_575+5972dupTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156653493
chr5:156653493 C
C
CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
8 a0001c0001t0001g0147
a0001c0001t0005g0130
a0001c0001t0007g0134
others(5): Show 
a0001c0001t0001g0147
a0001c0001t0005g0130
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0016g0144
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0053g0085
8 HG01243.hp1
HG01243.hp2
HG02615.hp2
others(5): Show 
HG01243.hp1
HG01243.hp2
HG02615.hp2
HG02970.hp2
HG03453.hp1
NA18985.hp2
NA19057.hp2
NA19066.hp1
intron_variant MODIFIER c.575+5960_575+5972d
others(15): Show 
c.575+5960_575+5972dupTTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156653493
chr5:156653493 C
C
CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
4 a0001c0001t0005g0129
a0001c0001t0025g0035
a0001c0002t0004g0113
others(1): Show 
a0001c0001t0005g0129
a0001c0001t0025g0035
a0001c0002t0004g0113
a0001c0002t0015g0086
4 HG01071.hp2
HG02809.hp2
NA19009.hp1
others(1): Show 
HG01071.hp2
HG02809.hp2
NA19009.hp1
NA20129.hp2
intron_variant MODIFIER c.575+5959_575+5972d
others(16): Show 
c.575+5959_575+5972dupTTTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156653493
chr5:156653493 C
C
CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
31 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(28): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0143
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0061g0103
a0001c0004t0001g0009
31 HG00558.hp1
HG01081.hp1
HG02071.hp2
others(28): Show 
HG00558.hp1
HG01081.hp1
HG02071.hp2
HG02129.hp1
HG02155.hp1
HG02258.hp2
HG02698.hp1
HG02723.hp1
HG02897.hp2
HG02922.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20805.hp1
intron_variant MODIFIER c.575+5958_575+5972d
others(17): Show 
c.575+5958_575+5972dupTTTTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156653493
chr5:156653493 C
C
CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
20 a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
others(17): Show 
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0133
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0006g0040
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0018g0039
a0001c0002t0002g0061
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0109
a0001c0002t0023g0071
a0001c0002t0054g0073
a0001c0004t0017g0007
a0002c0003t0003g0140
a0004c0007t0020g0012
20 HG01070.hp1
HG01169.hp1
HG01516.hp2
others(17): Show 
HG01070.hp1
HG01169.hp1
HG01516.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19030.hp2
intron_variant MODIFIER c.575+5972_575+5973i
others(18): Show 
c.575+5972_575+5973insTTTTTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156653493
chr5:156653493 C
C
CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
26 a0001c0001t0001g0023
a0001c0001t0003g0056
a0001c0001t0003g0119
others(23): Show 
a0001c0001t0001g0023
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0095
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0059g0002
a0002c0003t0017g0014
a0003c0005t0001g0148
26 HG00639.hp1
HG01070.hp2
HG01071.hp1
others(23): Show 
HG00639.hp1
HG01070.hp2
HG01071.hp1
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01891.hp2
HG01978.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+5972_575+5973i
others(19): Show 
c.575+5972_575+5973insTTTTTTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156653493
chr5:156653493 C
C
CTTTTTTT
others(11): Show 
CTTTTTTTTTTTTTTTTTT
6 a0001c0001t0005g0047
a0001c0001t0026g0016
a0001c0002t0004g0079
others(3): Show 
a0001c0001t0005g0047
a0001c0001t0026g0016
a0001c0002t0004g0079
a0001c0002t0010g0094
a0001c0002t0023g0112
a0001c0002t0024g0100
6 HG01258.hp1
HG01258.hp2
HG02698.hp2
others(3): Show 
HG01258.hp1
HG01258.hp2
HG02698.hp2
HG03098.hp1
NA19010.hp2
NA20300.hp1
intron_variant MODIFIER c.575+5972_575+5973i
others(20): Show 
c.575+5972_575+5973insTTTTTTTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156653493
chr5:156653493 C
C
CTTTTTTT
others(17): Show 
CTTTTTTTTTTTTTTTTTTTTTTTT
3 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0002t0058g0089
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0002t0058g0089
3 HG01109.hp2
HG02055.hp2
HG02145.hp2
HG01109.hp2
HG02055.hp2
HG02145.hp2
intron_variant MODIFIER c.575+5972_575+5973i
others(26): Show 
c.575+5972_575+5973insTTTTTTTTTTTTTTTTTTTTTTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156653493
chr5:156653493 CTTT
CTTT
C
C
17 a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0006g0038
others(14): Show 
a0001c0001t0001g0050
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0042g0065
a0001c0001t0049g0149
a0001c0002t0022g0029
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0006t0018g0145
17 HG02055.hp1
HG02257.hp1
HG02622.hp1
others(14): Show 
HG02055.hp1
HG02257.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
NA18522.hp2
NA18906.hp2
NA19043.hp1
NA20300.hp2
intron_variant MODIFIER c.575+5970_575+5972d
others(5): Show 
c.575+5970_575+5972delTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156653493
chr5:156653537 G
G
A
A
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
a0001c0002t0060g0074
9 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(6): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+6001G>A
c.575+6001G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156653537
chr5:156653568 C
C
T
T
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+6032C>T
c.575+6032C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156653568
chr5:156653709 C
C
T
T
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+6173C>T
c.575+6173C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156653709
chr5:156653738 A
A
G
G
88 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(85): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
88 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(85): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+6202A>G
c.575+6202A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156653738
chr5:156653767 A
A
G
G
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.575+6231A>G
c.575+6231A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156653767
chr5:156653954 G
G
T
T
8 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
others(5): Show 
a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0029g0024
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
8 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(5): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
HG03098.hp2
HG03130.hp2
NA18522.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+6418G>T
c.575+6418G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156653954
chr5:156654083 G
G
A
A
122 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(119): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
122 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(119): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+6547G>A
c.575+6547G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156654083
chr5:156654512 G
G
A
A
88 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(85): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
88 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(85): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+6976G>A
c.575+6976G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156654512
chr5:156654629 A
A
G
G
8 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
others(5): Show 
a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0029g0024
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
8 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(5): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
HG03098.hp2
HG03130.hp2
NA18522.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+7093A>G
c.575+7093A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156654629
chr5:156654818 C
C
T
T
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.575+7282C>T
c.575+7282C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156654818
chr5:156654895 G
G
A
A
139 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(136): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
139 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(136): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+7359G>A
c.575+7359G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156654895
chr5:156655066 T
T
G
G
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
a0001c0002t0060g0074
9 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(6): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+7530T>G
c.575+7530T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156655066
chr5:156655141 A
A
G
G
8 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
others(5): Show 
a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0029g0024
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
8 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(5): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
HG03098.hp2
HG03130.hp2
NA18522.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+7605A>G
c.575+7605A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156655141
chr5:156655225 A
A
G
G
139 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(136): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
139 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(136): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+7689A>G
c.575+7689A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156655225
chr5:156655320 T
T
G
G
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+7784T>G
c.575+7784T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156655320
chr5:156655340 CTTGT
CTTGT
C
C
4 a0001c0001t0001g0052
a0001c0001t0009g0049
a0001c0001t0014g0048
others(1): Show 
a0001c0001t0001g0052
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0002t0002g0061
4 HG02257.hp2
HG02723.hp1
HG03139.hp2
others(1): Show 
HG02257.hp2
HG02723.hp1
HG03139.hp2
HG03486.hp2
intron_variant MODIFIER c.575+7810_575+7813d
others(6): Show 
c.575+7810_575+7813delTGTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156655340
chr5:156655430 A
A
C
C
9 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(6): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
a0001c0002t0060g0074
9 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(6): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+7894A>C
c.575+7894A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156655430
chr5:156655617 T
T
A
A
1 a0001c0002t0023g0112
a0001c0002t0023g0112
1 HG03098.hp1
HG03098.hp1
intron_variant MODIFIER c.575+8081T>A
c.575+8081T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156655617
chr5:156655660 T
T
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+8124T>C
c.575+8124T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156655660
chr5:156655751 C
C
T
T
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.575+8215C>T
c.575+8215C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156655751
chr5:156655986 G
G
A
A
122 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(119): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
122 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(119): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+8450G>A
c.575+8450G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156655986
chr5:156656122 A
A
C
C
1 a0001c0002t0008g0076
a0001c0002t0008g0076
1 NA19010.hp1
NA19010.hp1
intron_variant MODIFIER c.575+8586A>C
c.575+8586A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156656122
chr5:156656162 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+8626T>C
c.575+8626T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156656162
chr5:156656813 T
T
G
G
119 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(116): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
119 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(116): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+9277T>G
c.575+9277T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156656813
chr5:156657170 C
C
T
T
1 a0001c0002t0056g0096
a0001c0002t0056g0096
1 HG03704.hp1
HG03704.hp1
intron_variant MODIFIER c.575+9634C>T
c.575+9634C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156657170
chr5:156657231 C
C
T
T
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+9695C>T
c.575+9695C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156657231
chr5:156657305 T
T
C
C
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.575+9769T>C
c.575+9769T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156657305
chr5:156657580 T
T
C
C
1 a0001c0001t0018g0039
a0001c0001t0018g0039
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.575+10044T>C
c.575+10044T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156657580
chr5:156657700 TGCAGTTG
others(9178): Show 
TGCAGTTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTA
AGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATAG
AGAAAGAAATAAGGGGACCCGGGGAACCAGCGTTCAGCATATGGAGGATC
CCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGTTT
CTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGGGT
CAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAGACAATGTAAAG
GATTAAGTGCTGTGCTTTTGGATATGCATACACATAAACATCTCAATGCT
TTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGCGG
TTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGAGA
CATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTCTC
AACTGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTCCTCAGCACAGAC
CCTTTACAGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCACGA
GGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGGC
TTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTGGG
TACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCA
AGCATCTGTTTAACAAAGCACATCCTGCACCGCCCTTAATCCATTCAACC
CTGAGTTGACACAGCACACGTTTCAGAGAGCACGGGGTTTGGGGTAAGGT
CATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGCACATAACA
AAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATT
TGATCTCTCTTGCTTTTCCCCACATTTCCCCCTTTTCTTTTCGACAAAAC
CGCCATCATCATCATGGCCCGTTCTCGATGGTCGCTGTCTCTTCGGAGCT
GTTGGGTACACCTGCAGACTAACAACAGACAAAACAGGCACACAAGGATT
AATATGAGATTTATAATCGTAGTACTTCCAATGGTCTTAACCCAAGTGAC
AGGGTTAAGATTTGCGAGGCCATCAGCAACTCCTGCAATTGCCTCAGTTC
CTGGCACCAAATTTAAATGGGCTTTTGATGCTTCGAAAATTTGTTCTTTT
AATTTGGAAATGTCTAAAGTGAGATTATCTTCTCTTCCCTGTAGATGGCG
TCTAACCATGTCCCAGTGATGCTCAGACTCATTATAAATTTGGGGTGTAA
TACAAAAATCTGACGTATTCCAGTCACATTGTAACTGGAAACGATGTTCT
AAGCTCATGAGTCTGTCTCCCATCCAAATGACAGTTTGTCTAAGATCATT
AATTTGATTTGCCAATTTTTGATCAATACTAGATTGTGAATTCCACAATC
TTGTAGAATTCTTTTGCCAATCATTAACAAAGTTTACTGACTGAACAGAA
GAGTGCAATGCAACTCCTGCTACAGCAGCCGTAGCTGTGACTGCAATTAA
TCCCATAATCACTGCAATTAAAGTAAAAATGAATCTTTTGGATCTATTTA
AAACACCTTTTAATACTTCAGTCAAAATATGGACGGATGGTGAGGCCTCC
CACGGTCGGTCCATGGACACAGGGATCCACACGCCCTCTCTTGCTCTCAC
CAGCAGAATACGGTGTTGCCAATTAAAAGTTGAATCAATGCAAGTAAGCA
ATCTACAATTTTCACAGGTTATAGTCTGGGAGTCTGGTTTAATAACTATA
TTTCCTACAACTAGCATATAAGGGGGCTTTACGCAACTTTGTAAAGGAAC
TGTTAGACTGGAATTTAGGTCGACAGTATAAAATGGCTTACAATCTCTTG
TTTCTAAAGTTTGATTTCCAGACCAAATTCTAATGTGGTGTGAGGCCACA
GTAAGCCTCCATAATTCTGGATGTTCAGGACCAGAAACAGGACTTACTAT
TTTTGGTCTTGGGGTAGAGATTCCTTTTTCTCCCCATTCCCAAGGGTAGA
AAGACTGCAATTTTTTATGCTTATGTTTGTCTAAACTTTCTGTTAAGTCG
CTATCAACAGCTGGACTCACTTGTGCACTTGGACACGACTGAGTTTGTCC
TGAGCAATTGTGGTAGAATTGACCTCGAGGTGCCCAATCTATAATAGTTC
CAAATTCATTGTTTTATAATATCACCGCACTATTGGCCACACATTCTTCC
CAAACTAAAACTTCTGTATTTTTTGATTCTTTGGGAATTTCCTTGGGGCA
AGGTTTCCCTTTAGGTCTAAATTTTAATGATCTTTGATAAGAAAAGTCTT
GTAAATAATTTACCCGTGGCCTGAGTGACATCCCGCTTACCATGTGATAA
GTGAATCTACTGATGGGACTGACAGTAGGTACTTCTACCAACCAATTTTG
GACTGCAGGCATTAAACATCCTGGTGCTCTCCCTAGGCAAATAGGAGGAT
AACGATACCCAATGGAAATATTTATCATCATCCCTTCTTCCTCAGGTTTG
GCAGGGCAGCGATCATCTATGGGGCCAGGTACCCATACACTATCATTAAC
ATATACTTCTATAGGATTATCCATCCATGTGACTGGTGTTACCATCTCCG
TGGAGGCCCTTTTCTTTGCATCTCCGATGGGTTCATTGTAGAACTTCAAA
TGTCTAGTGGGTAACCAAACAGGAAGCTGATTTTCTCCTGGTGAAACACA
AGCAAAACCTCTCCCCCACGTTATCACCTTCCCTATTTCCCATGTCTTAT
TTTTATTATCTTTCCACCAAATTAGTTTTCCTTCATGTGGGCTGTTCTTT
TTACCAGTAAGATGTTGTTCTGCAGAAGTAGTAGTCTGATTTCTATAAAT
GTTTAAAAAATTTAAAGTATAGAGTGCTAGATTAAGTTGCATCTGAGGAG
TGGTACACTCCTTACTGTCTCCCCCTTCTTTTTGTTTAACTAATTGAGTT
TTGAGTGTTCTATTAGTTCTTTCAACTATGGCCTGTCCTTGGGAATTATA
AGGAATTCCTGTTGTATGTGAAATTTTCCACTGACTTAAGAATTTTTGGA
AAGCTTTACTACAATATCCTGGTCCATTGTCAGTTTTGATTTTTTCTGGA
ACTCCCATTACAGCAAAACAAGACAATAAATGTTTTTTAACATGGGAAGT
ACTTTCTCCTGTTTGGCAAGTTGCCCATATGAAATGTGAATAAGTATCAA
CTGTTACATGAACATATGATAATCTTCCAAATGAAGGTACATGCGTGACA
TCCATTTGCCATAATGCATTAGGACACAGACCTCTGGGATTAACTCCTGC
CTCTTGAGTGGGCAGGTGTAAGACTTGACACTGGGTGCAATGTTGTACAA
TATCTTTTGCCTGTTTCCATGTGACATCAAATTTGTTTTTTAATCCTGCT
GCATTTACATGAGTCAAAGCATGAAGTTCTTGTGCTTTTATGAGTGCAGA
TGATACCAGTAAGTCAGCTTGTTCATTTGCTTTAGTCAAAGGCCCTGGTA
AATTAGTGTGTGCTCGAATATGAGTAATATAAAATGGGAAATTTCTTTTT
CTTACAGTTTGTTGTAATAAATTGAATAGCTGGTTTAACTGATCATCCAT
GCTATATTTAATTAGAGCTGTCTCAACATCCCTTGTAGCCTGTACTACAT
ATGCAGAATCTGATATAATATTGATAGGTTGGTCAAAATCTTGTAACACT
GTAATGACTGCAACCAACTCTGCTCTTTGAGCCGATTGATATGGAGTTTT
GATTACTCGTTCTTTCGGCCCTGTGTAAGCTGCTTTTCCATTGCTGGAAC
CATCAGTAAATACTGTTAGAGCATTTTCTAAAGGTTCACGTCTGGTAATT
TTAGGTAGAATCCAAGTAGTCAATTTTAAGAACTGGAAGATCTTTGTTTT
TGGGTAATGATTATCAATAAGTCCCACAAAATTAGCAAGACCAATCTGCC
ATGCACCAGAATTGATAAAGGCTTGTCTAACTTGTTCCTTGGTTAAAGGG
ACAACTATTTTGTCTGGGTCATTTCCACATAATTTTGTTATTCGTAATCT
TGTCTGACCGATTAATGTAGCTATTTGATCCAAGTACAATGTAAAAGTCT
TAACTGTACTGTGAGGAAGGAATGACCACTCCACAAGATCAGTATTTTGA
ATAATGATGCCTGTTGGAGAATGTGCAGTGGCAAAAATAAAAAGTTGGAG
TGGGGCTAAGGGATCTATTCTATTTATTTGCGCTGACTGAATTTTTTCTT
CCACTAATTTAATTTCTTTTGTTGCCTCTGGGGTTAATATTCTTTGACTA
TTTAAGTCTGAGTCTCCTCTTAAGATAGAGAACAAATTTGACATGGCATA
AGTAGGAATGCCTAGAGTTGGCCGAATCCAATTAATATCTCCTAGTAATT
TTTGAAAATCATTTAGTGTTTTTAATGTGTCTTTTCTTATTTCTATTTTT
TGTGGCTTAATTTTTCTATTTTCTATCTGCATCCCTAAATAATGAAAAGG
AGTAGAGGTTTGGATCTTATCAGATGCTATTGCCAGTCCAGCATTGGCAA
CCTCTGCTTGCAGAAATGTATAACAGTCAATTAATTTATCTTTCGTTTCT
GCAGCACATAAAATATCATCAATATAATGAATAATATAACAGTCTGAAAA
CTTTTCTCTCACTGGTTGAAGAGCTCGACCTACAAAAGTCTGACAAATAG
TTGGACTATTAAGCATTCCCTGAGGTAACACTTTCCACTGAAACCTGGTG
GCTGGTTCTTTATTATTTATGGCTGGTATAGTAAAGGCAAATTTTTCACA
ATCCTGCTCTGCCAGAGGGATGGTAAAAAAGCAATCCTTTAGATCAATTA
TAATTAAAGGCCAATCTTTTGGGATCATGGCCGGAGAGGGCAACCCGGGT
TGGAGAGGCCCCATGGGTTGAATTACGGCGTTTACAGCCCTTAAGTCAGT
TAACATACGCCATTTGCCTGATTTCTTCTGAATTACAAACACAGGAGAAT
TCCAAGGTGAGAACGAAGGCTCAATGTGACCCTTTTCTAACTGTTCATTT
GCTAATAAATGTAAAGCCTCCAGTTTTTGTTTTGGTAGCGGCCACTGATT
TACCCACACCGGTTTTTCTGTTTTCCAAGTTAGTGGTATGGGTTTAGGAG
GCTCTACAGTGACCGCCCCTAAAAAGGATACCCTATTCCTTCTCTTTCTT
GATTTATTTTAGCCTCAACTGGAACTTTAATGCCATCTTCATTTTTCCCT
AGTCCCTTTCCTGGTATATATCCCATCTTGGTCATGATTTTTTGACTCGT
GGGGCTATATAATGGAGCGGGCATGGTGATTTCCGCACCCCATTGTTGTA
ATAAATCTCGACCCCACAGATTAAGAGGAATTGAAGTAATCATTGGCTGA
ACAGTACTTTCTTGATTATCTGGCCCTAAGCAATGTAAAATCTCCATACT
TTGATACACTTCTGAGGCTGTGCCTATGCCGACAAGTCCTGTAACAGCCT
TTTGTTTAGGCCAATTTTTTGGCCACTGATTTAAAGCAATGATAGAGACA
TCTGCTCCAGTGTCTACCAACCCTTCAAACTGTTTTCCTTGAATAATGGC
CTTACACACAGGTCTGTTCTCTGAGACCTGACTTGCCCAATATGCAGCCT
TTCCTGTTGGATCAGTGCTTACAAGCCCTCCTATTCTTTTTATTTCACTA
TTTCCACCCTTAATATATGGCAGGAGTAATAATTGAGCAATCCTGTCTCT
TGGACTGGCACTCCAAGGAATTGAAGAGCTAATAACCAATTGAATTTCGC
CTTTATAGTCTGAATCAACCACACTAGTATGAATTTGAACTCCTTTTAGA
TTTAGACTTGATCTTCCCAAGATTAGTCCTACAGTCCCCTCAGGCAGTGG
GCCATATACCCCTGTAGGGATTTTTTGTGGGGGCTCCCCTGGAAGCAGAG
AGACTGCTTGTATAGTACATAAATCTACTGCTGCACTGCCGCTTGTGGTG
AGGGACAATTGTTGTATTGTGGTAACTGGCTTATTCCCTGAAACACTTGG
GACAGTAGGGGTTGTTGTCCCTGAAAACCCTGAGGAACAAATGGCTGAAT
TGGGAATGCCCCAGTTTGTTGTGGGGCCTGAGGCTGGCCCCTTTGCTCGT
TTCCCGACAATGGTTGCCCATTTTTATCAAATTTAGAACGACATTGACTA
GCCCAATGTTTTCCTTTTTTACATCTTGGACATAAGTCAGGTGGCTCTCT
ACCTGTTGTAGTTGCTTGAATAGTTATATTCTGTTTGTTTAAGACTGGGC
AATTCTTTTTTAAGTGACCAATTTGACCACAATTATAACATTTTCCTCCA
AATGTTCTAACTTGTCCTCCTAAAACAACTCCTGTTATTGCTTGAGCCAT
AAGCATAGCTTTATGCATAGCTCCTCCGATTCCATCACAGGCTTTTACAT
ATTCTGAGATTACATCTGATCCTGCAGGAACCTTTCCTTTTAATGGCTTA
ATGGCTGATTGACACTCAGGATTGGCGTTTTCATATGCCATCAACTCCAC
TATGACCTTACCGGCTTTTTCATCGGCAATTGACTTTTGAGCAACATCTT
GGAGCCTTGCCACAAAATCAGGGTAGGGCTCTTTTGAACCTTGTCTTACT
GTATTAAATGAGGGGCAGGTACTTCCTGGGTCTTGGATTTTTTCCCAGGC
TCTAAGGCAGATAGCTCTAACTTGCTCAATGGCCTCATTTTGCATTAATG
CTTGTTGACTAATAGTACTCCAATTTTGACCTATTCCTAATAGTTGATCT
GCATCTATGTTAACTGGAGGATTGGCAGCCCTATTTCTTCGGACCTGTTC
TTGTACCCCATCAATCCACCAAGTCTTAAATTGTAAAAATTGAGAGGGTG
AGAGAGACGATTTTGCCAGAATCTCCCAATCATAAGGAATGAGTCTATGT
CCATAAGCAATGGAATCTAATAATGTCCTCATATAAGGGGAGTTGGGTCC
ATACTGTTTTACTCCCTCTTTCATATCTTTTAGCATTTTTATCGAAAAAG
ACTTGTATCTGGCCTCAACTGTGGGAGGCTCTCCCTCTTGGGCTCCTTCT
CCAGGTGGCATCGGTTCTAACGTTACTGGGAATTGCCATGCCTCAGTATC
TCCTTCCTTTCTTGATTTATCAATAATTTCATGTAATTCACTACCCTGTC
TACTAGGTGGTGCCATAGGATTAAGTCTCCTAGTGGGCGGCTGATGGTAT
GGCGCCCTGCCCTGTGGTGCTGGGGGCATTCCTGGATATCCATACTGACT
TTCTGGGGGTGGCCGATACTGAAGTTCAGCCGGCGGCCAGTATTGATAGG
CTACTGGCGGTTGGGTCTTATTTTCTTTAACCTGCTTTTGAGGTTGTAAT
CTTACGGGCACCTGACCTGCTGGAAGAGGACTTGTGCCTCGTGGTTTAGA
CTCTGATGGCCCCATTAATTCTGGACCTTTTCCTTCTAATTTTAACGTTT
CAGGATATATCACCTCCTGTAATTGATTATAGTCAACATTTTGCGTTGAC
TGAGCCATTACCGGCTCTGCTACATATTCGCAATGTAAACTTTCGGTTTC
TTTCTGGGATTTTTTCCTTGTGTTTTCATTACAATCTATTAAACAGCTTC
CAGGGGCATCAGAAACTGAAATGCTATCTTCTTCTGTTTGAAATGGTTCT
AAAGCTGCTTTAATAATGGCCCAATCATTCCATACTGTAAGTGGAATGAT
ATTACCCTTCCTACCTGCTTGTTTTAGTTCCTTACCAATTCTTTTCCAAT
CTTTTAGATCTAAAGTTCCTTGTTCTGGAAACCATGGGCAAAATTGTTCT
ATTATTTGAAATAGCTTGATTAGATTTTTTGTAGATACTTTAACTCCCCC
TCTTTTTAAAAGAATTTTAATAAAGCTGAGATAAGAGGCATATTTACTTT
TAATTTTACTTTTAGTTTGCCCCATTATCACCCTAGCTTCTTCCGAGCGC
GCAAGCTTACCGTAAGGCTGACTGTAGATGTACTCGGGATCTCTCGTCGA
CTTGTCCTCAATGACCACGCTCGAGCGTACCTTCACCCTAGAGAAAAGCC
TCCACGTTGGGCACCAGATGTAGGGGTGGGTTGCCCCTACACACCTGTGG
GTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGA
GACAAAGTATAGAGAAAGAAATAAGGGGACCCGGGGAACCAGCGTTCAGC
ATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCAT
CTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTG
TAGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATA
GACAATGTAAAGGATTAAGTGCTGTGCTTTTGGATATGCATACACATAAA
CATCTCAATGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCA
GCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGT
TTTATACCGAGACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCT
TCCTCTTGTCTCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTC
CTCAGCACAGACCCTTTACAGGTGTCGGGCTGGGGGACGGTCAGGTCTTT
CCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGG
ACAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTT
TGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGC
ATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCCTGCACCGCCCTTA
ATCCATTCAACCCTGAGTTGACACAGCACACGTTTCAGAGAGCACGGGGT
TGGGGGTAAGGTCATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCT
TAGCACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGAC
ACAGTAACAATTTGATCTCTCTTGCTTTTCCCCACA
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+10170_575+1935
others(4): Show 
c.575+10170_575+19354del
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156657700
chr5:156657724 C
C
G
G
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.575+10188C>G
c.575+10188C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156657724
chr5:156657728 A
A
C
C
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0042g0065
a0001c0002t0060g0074
7 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(4): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
intron_variant MODIFIER c.575+10192A>C
c.575+10192A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156657728
chr5:156657746 C
C
T
T
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.575+10210C>T
c.575+10210C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156657746
chr5:156657939 GGGGAGAG
others(8205): Show 
GGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAG
ACAATGTAAAGGATTAAGTGCTGTGCTTTTGGATATGCATACACATAAAC
ATCTCAATGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAG
CCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTT
TTATACCGAGACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTT
CCTCTTGTCTCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTCC
TCAGCACAGACCCTTTACAGGTGTCGGGCTGGGGGACGGTCAGGTCTTTC
CCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGA
CAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTT
GTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCA
TGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCCTGCACCGCCCTTAA
TCCATTCAACCCTGAGTTGACACAGCACACGTTTCAGAGAGCACGGGGTT
TGGGGTAAGGTCATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTT
AGCACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACA
CAGTAACAATTTGATCTCTCTTGCTTTTCCCCACATTTCCCCCTTTTCTT
TTCGACAAAACCGCCATCATCATCATGGCCCGTTCTCGATGGTCGCTGTC
TCTTCGGAGCTGTTGGGTACACCTGCAGACTAACAACAGACAAAACAGGC
ACACAAGGATTAATATGAGATTTATAATCGTAGTACTTCCAATGGTCTTA
ACCCAAGTGACAGGGTTAAGATTTGCGAGGCCATCAGCAACTCCTGCAAT
TGCCTCAGTTCCTGGCACCAAATTTAAATGGGCTTTTGATGCTTCGAAAA
TTTGTTCTTTTAATTTGGAAATGTCTAAAGTGAGATTATCTTCTCTTCCC
TGTAGATGGCGTCTAACCATGTCCCAGTGATGCTCAGACTCATTATAAAT
TTGGGGTGTAATACAAAAATCTGACGTATTCCAGTCACATTGTAACTGGA
AACGATGTTCTAAGCTCATGAGTCTGTCTCCCATCCAAATGACAGTTTGT
CTAAGATCATTAATTTGATTTGCCAATTTTTGATCAATACTAGATTGTGA
ATTCCACAATCTTGTAGAATTCTTTTGCCAATCATTAACAAAGTTTACTG
ACTGAACAGAAGAGTGCAATGCAACTCCTGCTACAGCAGCCGTAGCTGTG
ACTGCAATTAATCCCATAATCACTGCAATTAAAGTAAAAATGAATCTTTT
GGATCTATTTAAAACACCTTTTAATACTTCAGTCAAAATATGGACGGATG
GTGAGGCCTCCCACGGTCGGTCCATGGACACAGGGATCCACACGCCCTCT
CTTGCTCTCACCAGCAGAATACGGTGTTGCCAATTAAAAGTTGAATCAAT
GCAAGTAAGCAATCTACAATTTTCACAGGTTATAGTCTGGGAGTCTGGTT
TAATAACTATATTTCCTACAACTAGCATATAAGGGGGCTTTACGCAACTT
TGTAAAGGAACTGTTAGACTGGAATTTAGGTCGACAGTATAAAATGGCTT
ACAATCTCTTGTTTCTAAAGTTTGATTTCCAGACCAAATTCTAATGTGGT
GTGAGGCCACAGTAAGCCTCCATAATTCTGGATGTTCAGGACCAGAAACA
GGACTTACTATTTTTGGTCTTGGGGTAGAGATTCCTTTTTCTCCCCATTC
CCAAGGGTAGAAAGACTGCAATTTTTTATGCTTATGTTTGTCTAAACTTT
CTGTTAAGTCGCTATCAACAGCTGGACTCACTTGTGCACTTGGACACGAC
TGAGTTTGTCCTGAGCAATTGTGGTAGAATTGACCTCGAGGTGCCCAATC
TATAATAGTTCCAAATTCATTGTTTTATAATATCACCGCACTATTGGCCA
CACATTCTTCCCAAACTAAAACTTCTGTATTTTTTGATTCTTTGGGAATT
TCCTTGGGGCAAGGTTTCCCTTTAGGTCTAAATTTTAATGATCTTTGATA
AGAAAAGTCTTGTAAATAATTTACCCGTGGCCTGAGTGACATCCCGCTTA
CCATGTGATAAGTGAATCTACTGATGGGACTGACAGTAGGTACTTCTACC
AACCAATTTTGGACTGCAGGCATTAAACATCCTGGTGCTCTCCCTAGGCA
AATAGGAGGATAACGATACCCAATGGAAATATTTATCATCATCCCTTCTT
CCTCAGGTTTGGCAGGGCAGCGATCATCTATGGGGCCAGGTACCCATACA
CTATCATTAACATATACTTCTATAGGATTATCCATCCATGTGACTGGTGT
TACCATCTCCGTGGAGGCCCTTTTCTTTGCATCTCCGATGGGTTCATTGT
AGAACTTCAAATGTCTAGTGGGTAACCAAACAGGAAGCTGATTTTCTCCT
GGTGAAACACAAGCAAAACCTCTCCCCCACGTTATCACCTTCCCTATTTC
CCATGTCTTATTTTTATTATCTTTCCACCAAATTAGTTTTCCTTCATGTG
GGCTGTTCTTTTTACCAGTAAGATGTTGTTCTGCAGAAGTAGTAGTCTGA
TTTCTATAAATGTTTAAAAAATTTAAAGTATAGAGTGCTAGATTAAGTTG
CATCTGAGGAGTGGTACACTCCTTACTGTCTCCCCCTTCTTTTTGTTTAA
CTAATTGAGTTTTGAGTGTTCTATTAGTTCTTTCAACTATGGCCTGTCCT
TGGGAATTATAAGGAATTCCTGTTGTATGTGAAATTTTCCACTGACTTAA
GAATTTTTGGAAAGCTTTACTACAATATCCTGGTCCATTGTCAGTTTTGA
TTTTTTCTGGAACTCCCATTACAGCAAAACAAGACAATAAATGTTTTTTA
ACATGGGAAGTACTTTCTCCTGTTTGGCAAGTTGCCCATATGAAATGTGA
ATAAGTATCAACTGTTACATGAACATATGATAATCTTCCAAATGAAGGTA
CATGCGTGACATCCATTTGCCATAATGCATTAGGACACAGACCTCTGGGA
TTAACTCCTGCCTCTTGAGTGGGCAGGTGTAAGACTTGACACTGGGTGCA
ATGTTGTACAATATCTTTTGCCTGTTTCCATGTGACATCAAATTTGTTTT
TTAATCCTGCTGCATTTACATGAGTCAAAGCATGAAGTTCTTGTGCTTTT
ATGAGTGCAGATGATACCAGTAAGTCAGCTTGTTCATTTGCTTTAGTCAA
AGGCCCTGGTAAATTAGTGTGTGCTCGAATATGAGTAATATAAAATGGGA
AATTTCTTTTTCTTACAGTTTGTTGTAATAAATTGAATAGCTGGTTTAAC
TGATCATCCATGCTATATTTAATTAGAGCTGTCTCAACATCCCTTGTAGC
CTGTACTACATATGCAGAATCTGATATAATATTGATAGGTTGGTCAAAAT
CTTGTAACACTGTAATGACTGCAACCAACTCTGCTCTTTGAGCCGATTGA
TATGGAGTTTTGATTACTCGTTCTTTCGGCCCTGTGTAAGCTGCTTTTCC
ATTGCTGGAACCATCAGTAAATACTGTTAGAGCATTTTCTAAAGGTTCAC
GTCTGGTAATTTTAGGTAGAATCCAAGTAGTCAATTTTAAGAACTGGAAG
ATCTTTGTTTTTGGGTAATGATTATCAATAAGTCCCACAAAATTAGCAAG
ACCAATCTGCCATGCACCAGAATTGATAAAGGCTTGTCTAACTTGTTCCT
TGGTTAAAGGGACAACTATTTTGTCTGGGTCATTTCCACATAATTTTGTT
ATTCGTAATCTTGTCTGACCGATTAATGTAGCTATTTGATCCAAGTACAA
TGTAAAAGTCTTAACTGTACTGTGAGGAAGGAATGACCACTCCACAAGAT
CAGTATTTTGAATAATGATGCCTGTTGGAGAATGTGCAGTGGCAAAAATA
AAAAGTTGGAGTGGGGCTAAGGGATCTATTCTATTTATTTGCGCTGACTG
AATTTTTTCTTCCACTAATTTAATTTCTTTTGTTGCCTCTGGGGTTAATA
TTCTTTGACTATTTAAGTCTGAGTCTCCTCTTAAGATAGAGAACAAATTT
GACATGGCATAAGTAGGAATGCCTAGAGTTGGCCGAATCCAATTAATATC
TCCTAGTAATTTTTGAAAATCATTTAGTGTTTTTAATGTGTCTTTTCTTA
TTTCTATTTTTTGTGGCTTAATTTTTCTATTTTCTATCTGCATCCCTAAA
TAATGAAAAGGAGTAGAGGTTTGGATCTTATCAGATGCTATTGCCAGTCC
AGCATTGGCAACCTCTGCTTGCAGAAATGTATAACAGTCAATTAATTTAT
CTTTCGTTTCTGCAGCACATAAAATATCATCAATATAATGAATAATATAA
CAGTCTGAAAACTTTTCTCTCACTGGTTGAAGAGCTCGACCTACAAAAGT
CTGACAAATAGTTGGACTATTAAGCATTCCCTGAGGTAACACTTTCCACT
GAAACCTGGTGGCTGGTTCTTTATTATTTATGGCTGGTATAGTAAAGGCA
AATTTTTCACAATCCTGCTCTGCCAGAGGGATGGTAAAAAAGCAATCCTT
TAGATCAATTATAATTAAAGGCCAATCTTTTGGGATCATGGCCGGAGAGG
GCAACCCGGGTTGGAGAGGCCCCATGGGTTGAATTACGGCGTTTACAGCC
CTTAAGTCAGTTAACATACGCCATTTGCCTGATTTCTTCTGAATTACAAA
CACAGGAGAATTCCAAGGTGAGAACGAAGGCTCAATGTGACCCTTTTCTA
ACTGTTCATTTGCTAATAAATGTAAAGCCTCCAGTTTTTGTTTTGGTAGC
GGCCACTGATTTACCCACACCGGTTTTTCTGTTTTCCAAGTTAGTGGTAT
GGGTTTAGGAGGCTCTACAGTGACCGCCCCTAAAAAGGATACCCTATTCC
TTCTCTTTCTTGATTTATTTTAGCCTCAACTGGAACTTTAATGCCATCTT
CATTTTTCCCTAGTCCCTTTCCTGGTATATATCCCATCTTGGTCATGATT
TTTTGACTCGTGGGGCTATATAATGGAGCGGGCATGGTGATTTCCGCACC
CCATTGTTGTAATAAATCTCGACCCCACAGATTAAGAGGAATTGAAGTAA
TCATTGGCTGAACAGTACTTTCTTGATTATCTGGCCCTAAGCAATGTAAA
ATCTCCATACTTTGATACACTTCTGAGGCTGTGCCTATGCCGACAAGTCC
TGTAACAGCCTTTTGTTTAGGCCAATTTTTTGGCCACTGATTTAAAGCAA
TGATAGAGACATCTGCTCCAGTGTCTACCAACCCTTCAAACTGTTTTCCT
TGAATAATGGCCTTACACACAGGTCTGTTCTCTGAGACCTGACTTGCCCA
ATATGCAGCCTTTCCTGTTGGATCAGTGCTTACAAGCCCTCCTATTCTTT
TTATTTCACTATTTCCACCCTTAATATATGGCAGGAGTAATAATTGAGCA
ATCCTGTCTCTTGGACTGGCACTCCAAGGAATTGAAGAGCTAATAACCAA
TTGAATTTCGCCTTTATAGTCTGAATCAACCACACTAGTATGAATTTGAA
CTCCTTTTAGATTTAGACTTGATCTTCCCAAGATTAGTCCTACAGTCCCC
TCAGGCAGTGGGCCATATACCCCTGTAGGGATTTTTTGTGGGGGCTCCCC
TGGAAGCAGAGAGACTGCTTGTATAGTACATAAATCTACTGCTGCACTGC
CGCTTGTGGTGAGGGACAATTGTTGTATTGTGGTAACTGGCTTATTCCCT
GAAACACTTGGGACAGTAGGGGTTGTTGTCCCTGAAAACCCTGAGGAACA
AATGGCTGAATTGGGAATGCCCCAGTTTGTTGTGGGGCCTGAGGCTGGCC
CCTTTGCTCGTTTCCCGACAATGGTTGCCCATTTTTATCAAATTTAGAAC
GACATTGACTAGCCCAATGTTTTCCTTTTTTACATCTTGGACATAAGTCA
GGTGGCTCTCTACCTGTTGTAGTTGCTTGAATAGTTATATTCTGTTTGTT
TAAGACTGGGCAATTCTTTTTTAAGTGACCAATTTGACCACAATTATAAC
ATTTTCCTCCAAATGTTCTAACTTGTCCTCCTAAAACAACTCCTGTTATT
GCTTGAGCCATAAGCATAGCTTTATGCATAGCTCCTCCGATTCCATCACA
GGCTTTTACATATTCTGAGATTACATCTGATCCTGCAGGAACCTTTCCTT
TTAATGGCTTAATGGCTGATTGACACTCAGGATTGGCGTTTTCATATGCC
ATCAACTCCACTATGACCTTACCGGCTTTTTCATCGGCAATTGACTTTTG
AGCAACATCTTGGAGCCTTGCCACAAAATCAGGGTAGGGCTCTTTTGAAC
CTTGTCTTACTGTATTAAATGAGGGGCAGGTACTTCCTGGGTCTTGGATT
TTTTCCCAGGCTCTAAGGCAGATAGCTCTAACTTGCTCAATGGCCTCATT
TTGCATTAATGCTTGTTGACTAATAGTACTCCAATTTTGACCTATTCCTA
ATAGTTGATCTGCATCTATGTTAACTGGAGGATTGGCAGCCCTATTTCTT
CGGACCTGTTCTTGTACCCCATCAATCCACCAAGTCTTAAATTGTAAAAA
TTGAGAGGGTGAGAGAGACGATTTTGCCAGAATCTCCCAATCATAAGGAA
TGAGTCTATGTCCATAAGCAATGGAATCTAATAATGTCCTCATATAAGGG
GAGTTGGGTCCATACTGTTTTACTCCCTCTTTCATATCTTTTAGCATTTT
TATCGAAAAAGACTTGTATCTGGCCTCAACTGTGGGAGGCTCTCCCTCTT
GGGCTCCTTCTCCAGGTGGCATCGGTTCTAACGTTACTGGGAATTGCCAT
GCCTCAGTATCTCCTTCCTTTCTTGATTTATCAATAATTTCATGTAATTC
ACTACCCTGTCTACTAGGTGGTGCCATAGGATTAAGTCTCCTAGTGGGCG
GCTGATGGTATGGCGCCCTGCCCTGTGGTGCTGGGGGCATTCCTGGATAT
CCATACTGACTTTCTGGGGGTGGCCGATACTGAAGTTCAGCCGGCGGCCA
GTATTGATAGGCTACTGGCGGTTGGGTCTTATTTTCTTTAACCTGCTTTT
GAGGTTGTAATCTTACGGGCACCTGACCTGCTGGAAGAGGACTTGTGCCT
CGTGGTTTAGACTCTGATGGCCCCATTAATTCTGGACCTTTTCCTTCTAA
TTTTAACGTTTCAGGATATATCACCTCCTGTAATTGATTATAGTCAACAT
TTTGCGTTGACTGAGCCATTACCGGCTCTGCTACATATTCGCAATGTAAA
CTTTCGGTTTCTTTCTGGGATTTTTTCCTTGTGTTTTCATTACAATCTAT
TAAACAGCTTCCAGGGGCATCAGAAACTGAAATGCTATCTTCTTCTGTTT
GAAATGGTTCTAAAGCTGCTTTAATAATGGCCCAATCATTCCATACTGTA
AGTGGAATGATATTACCCTTCCTACCTGCTTGTTTTAGTTCCTTACCAAT
TCTTTTCCAATCTTTTAGATCTAAAGTTCCTTGTTCTGGAAACCATGGGC
AAAATTGTTCTATTATTTGAAATAGCTTGATTAGATTTTTTGTAGATACT
TTAACTCCCCCTCTTTTTAAAAGAATTTTAATAAAGCTGAGATAAGAGGC
ATATTTACTTTTAATTTTACTTTTAGTTTGCCCCATTATCACCCTAGCTT
CTTCCGAGCGCGCAAGCTTACCGTAAGGCTGACTGTAGATGTACTCGGGA
TCTCTCGTCGACTTGTCCTCAATGACCACGCTCGAGCGTACCTTCACCCT
AGAGAAAAGCCTCCACGTTGGGCACCAGATGTAGGGGTGGGTTGCCCCTA
CACACCTGTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAA
AAAGACACAGAGACAAAGTATAGAGAAAGAAATAAGGGGACCCGGGGAAC
CAGCGTTCAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTAT
TTATTGATCATCTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCA
CAAGACAATTGTA
G
G
9 a0001c0001t0001g0023
a0001c0001t0001g0117
a0001c0001t0006g0038
others(6): Show 
a0001c0001t0001g0023
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0042g0065
a0001c0002t0002g0061
a0001c0002t0060g0074
9 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(6): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03486.hp2
HG03704.hp2
intron_variant MODIFIER c.575+11003_575+1921
others(4): Show 
c.575+11003_575+19214del
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156657939
chr5:156657990 C
C
CA
CA
9 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0143
others(6): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0036g0043
a0001c0002t0002g0069
a0001c0002t0052g0111
9 HG02145.hp1
HG02258.hp2
HG02559.hp2
others(6): Show 
HG02145.hp1
HG02258.hp2
HG02559.hp2
HG03139.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19240.hp2
intron_variant MODIFIER c.575+10456dupA
c.575+10456dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156657990
chr5:156658097 C
C
A
A
1 a0001c0004t0017g0007
a0001c0004t0017g0007
1 HG02630.hp2
HG02630.hp2
intron_variant MODIFIER c.575+10561C>A
c.575+10561C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658097
chr5:156658098 G
G
A
A
20 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
others(17): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
20 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(17): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02698.hp2
HG02735.hp1
HG03098.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA20129.hp1
intron_variant MODIFIER c.575+10562G>A
c.575+10562G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658098
chr5:156658109 A
A
G
G
8 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
others(5): Show 
a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0029g0024
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
8 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(5): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
HG03098.hp2
HG03130.hp2
NA18522.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+10573A>G
c.575+10573A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658109
chr5:156658133 C
C
T
T
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.575+10597C>T
c.575+10597C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658133
chr5:156658168 C
C
G
G
3 a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0006t0018g0145
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0006t0018g0145
3 HG02055.hp1
HG02257.hp1
NA19043.hp1
HG02055.hp1
HG02257.hp1
NA19043.hp1
intron_variant MODIFIER c.575+10632C>G
c.575+10632C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658168
chr5:156658278 T
T
G
G
1 a0001c0002t0051g0099
a0001c0002t0051g0099
1 NA19066.hp2
NA19066.hp2
intron_variant MODIFIER c.575+10742T>G
c.575+10742T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658278
chr5:156658331 A
A
T
T
1 a0001c0001t0003g0119
a0001c0001t0003g0119
1 HG02735.hp2
HG02735.hp2
intron_variant MODIFIER c.575+10795A>T
c.575+10795A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658331
chr5:156658379 C
C
T
T
84 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(81): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
84 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(81): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+10843C>T
c.575+10843C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658379
chr5:156658518 C
C
T
T
84 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(81): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
84 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(81): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+10982C>T
c.575+10982C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658518
chr5:156658519 G
G
A
A
24 a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
others(21): Show 
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
24 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(21): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02615.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+10983G>A
c.575+10983G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658519
chr5:156658539 T
T
G
G
130 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(127): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
130 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(127): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+11003T>G
c.575+11003T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658539
chr5:156658656 C
C
A
A
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.575+11120C>A
c.575+11120C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658656
chr5:156658707 A
A
G
G
129 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
129 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(126): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+11171A>G
c.575+11171A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658707
chr5:156658818 G
G
A
A
1 a0001c0001t0036g0043
a0001c0001t0036g0043
1 NA18906.hp1
NA18906.hp1
intron_variant MODIFIER c.575+11282G>A
c.575+11282G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658818
chr5:156658864 C
C
T
T
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.575+11328C>T
c.575+11328C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658864
chr5:156658999 G
G
A
A
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.575+11463G>A
c.575+11463G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156658999
chr5:156659007 A
A
G
G
1 a0001c0001t0001g0050
a0001c0001t0001g0050
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.575+11471A>G
c.575+11471A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156659007
chr5:156659042 G
G
A
A
1 a0001c0001t0001g0050
a0001c0001t0001g0050
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.575+11506G>A
c.575+11506G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156659042
chr5:156659260 C
C
T
T
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.575+11724C>T
c.575+11724C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156659260
chr5:156659461 G
G
A
A
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.575+11925G>A
c.575+11925G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156659461
chr5:156659849 G
G
A
A
1 a0001c0002t0008g0076
a0001c0002t0008g0076
1 NA19010.hp1
NA19010.hp1
intron_variant MODIFIER c.575+12313G>A
c.575+12313G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156659849
chr5:156659944 T
T
C
C
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.575+12408T>C
c.575+12408T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156659944
chr5:156659976 G
G
T
T
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.575+12440G>T
c.575+12440G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156659976
chr5:156660047 G
G
T
T
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+12511G>T
c.575+12511G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156660047
chr5:156660210 A
A
G
G
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.575+12674A>G
c.575+12674A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156660210
chr5:156660337 C
C
T
T
85 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(82): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
85 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(82): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+12801C>T
c.575+12801C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156660337
chr5:156660393 A
A
C
C
21 a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
others(18): Show 
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
21 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(18): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02615.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.575+12857A>C
c.575+12857A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156660393
chr5:156660515 C
C
T
T
35 a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
others(32): Show 
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
35 HG00558.hp2
HG00639.hp2
HG01243.hp1
others(32): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.575+12979C>T
c.575+12979C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156660515
chr5:156660518 C
C
T
T
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+12982C>T
c.575+12982C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156660518
chr5:156660863 A
A
G
G
2 a0001c0001t0021g0046
a0001c0002t0024g0100
a0001c0001t0021g0046
a0001c0002t0024g0100
2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
intron_variant MODIFIER c.575+13327A>G
c.575+13327A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156660863
chr5:156660933 T
T
C
C
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.575+13397T>C
c.575+13397T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156660933
chr5:156660976 A
A
T
T
1 a0001c0001t0006g0041
a0001c0001t0006g0041
1 HG03579.hp2
HG03579.hp2
intron_variant MODIFIER c.575+13440A>T
c.575+13440A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156660976
chr5:156660986 T
T
TGAATAA
TGAATAA
23 a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
others(20): Show 
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
23 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(20): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02615.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.575+13452_575+1345
others(10): Show 
c.575+13452_575+13457dupAATAAG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156660986
chr5:156661034 A
A
T
T
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+13498A>T
c.575+13498A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156661034
chr5:156661079 A
A
G
G
2 a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0010g0001
a0001c0002t0010g0108
2 NA18990.hp2
NA19002.hp1
NA18990.hp2
NA19002.hp1
intron_variant MODIFIER c.575+13543A>G
c.575+13543A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156661079
chr5:156661218 G
G
A
A
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.575+13682G>A
c.575+13682G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156661218
chr5:156661267 C
C
T
T
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+13731C>T
c.575+13731C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156661267
chr5:156661321 G
G
A
A
65 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(62): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
65 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(62): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+13785G>A
c.575+13785G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156661321
chr5:156661327 T
T
C
C
1 a0001c0001t0048g0053
a0001c0001t0048g0053
1 HG00639.hp2
HG00639.hp2
intron_variant MODIFIER c.575+13791T>C
c.575+13791T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156661327
chr5:156661508 T
T
C
C
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+13972T>C
c.575+13972T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156661508
chr5:156661988 A
A
C
C
132 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
132 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(129): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+14452A>C
c.575+14452A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156661988
chr5:156662010 G
G
T
T
1 a0001c0002t0002g0095
a0001c0002t0002g0095
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.575+14474G>T
c.575+14474G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156662010
chr5:156662079 G
G
A
A
1 a0001c0002t0002g0077
a0001c0002t0002g0077
1 NA18966.hp2
NA18966.hp2
intron_variant MODIFIER c.575+14543G>A
c.575+14543G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156662079
chr5:156662093 T
T
C
C
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.575+14557T>C
c.575+14557T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156662093
chr5:156662350 C
C
T
T
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.575+14814C>T
c.575+14814C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156662350
chr5:156662633 A
A
G
G
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.575+15097A>G
c.575+15097A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156662633
chr5:156662754 A
A
G
G
66 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(63): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
66 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(63): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+15218A>G
c.575+15218A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156662754
chr5:156662757 C
C
T
T
86 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(83): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
86 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(83): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+15221C>T
c.575+15221C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156662757
chr5:156662813 C
C
T
T
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.575+15277C>T
c.575+15277C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156662813
chr5:156662964 G
G
A
A
2 a0001c0001t0006g0041
a0001c0001t0045g0137
a0001c0001t0006g0041
a0001c0001t0045g0137
2 HG01891.hp1
HG03579.hp2
HG01891.hp1
HG03579.hp2
intron_variant MODIFIER c.575+15428G>A
c.575+15428G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156662964
chr5:156663006 T
T
C
C
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(7): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+15470T>C
c.575+15470T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156663006
chr5:156663040 A
A
G
G
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.575+15504A>G
c.575+15504A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156663040
chr5:156663106 A
A
G
G
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
22 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(19): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.575+15570A>G
c.575+15570A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156663106
chr5:156663176 G
G
A
A
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+15640G>A
c.575+15640G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156663176
chr5:156663275 A
A
G
G
1 a0001c0001t0041g0028
a0001c0001t0041g0028
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.575+15739A>G
c.575+15739A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156663275
chr5:156663313 A
A
G
G
67 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
67 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(64): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+15777A>G
c.575+15777A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156663313
chr5:156663340 G
G
A
A
95 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(92): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
95 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(92): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+15804G>A
c.575+15804G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156663340
chr5:156663790 G
G
A
A
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.575+16254G>A
c.575+16254G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156663790
chr5:156663797 G
G
A
A
1 a0001c0002t0008g0076
a0001c0002t0008g0076
1 NA19010.hp1
NA19010.hp1
intron_variant MODIFIER c.575+16261G>A
c.575+16261G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156663797
chr5:156663856 A
A
G
G
128 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(125): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
128 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(125): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+16320A>G
c.575+16320A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156663856
chr5:156663948 G
G
A
A
1 a0001c0002t0010g0001
a0001c0002t0010g0001
1 NA18990.hp2
NA18990.hp2
intron_variant MODIFIER c.575+16412G>A
c.575+16412G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156663948
chr5:156663965 GC
GC
G
G
19 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(16): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.575+16432delC
c.575+16432delC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156663965
chr5:156664374 G
G
A
A
9 a0001c0001t0001g0045
a0001c0001t0014g0055
a0001c0001t0014g0132
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0004g0113
a0001c0002t0011g0051
a0001c0002t0023g0071
9 HG01070.hp1
HG01071.hp2
HG01169.hp1
others(6): Show 
HG01070.hp1
HG01071.hp2
HG01169.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
NA18964.hp1
NA19002.hp2
intron_variant MODIFIER c.575+16838G>A
c.575+16838G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156664374
chr5:156664495 C
C
T
T
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+16959C>T
c.575+16959C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156664495
chr5:156664541 G
G
C
C
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.575+17005G>C
c.575+17005G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156664541
chr5:156664582 A
A
G
G
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
22 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(19): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+17046A>G
c.575+17046A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156664582
chr5:156664912 G
G
A
A
11 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(8): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0022g0064
a0001c0002t0008g0101
a0001c0002t0008g0105
11 HG02083.hp2
HG02155.hp2
HG03041.hp2
others(8): Show 
HG02083.hp2
HG02155.hp2
HG03041.hp2
NA18959.hp2
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.575+17376G>A
c.575+17376G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156664912
chr5:156665131 G
G
A
A
67 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(64): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
67 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(64): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+17595G>A
c.575+17595G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665131
chr5:156665155 G
G
T
T
90 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(87): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
90 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(87): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+17619G>T
c.575+17619G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665155
chr5:156665206 G
G
A
A
95 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(92): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
95 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(92): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+17670G>A
c.575+17670G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665206
chr5:156665333 C
C
T
T
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.575+17797C>T
c.575+17797C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665333
chr5:156665379 G
G
A
A
9 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0143
others(6): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0036g0043
a0001c0002t0002g0069
a0001c0002t0052g0111
9 HG02145.hp1
HG02258.hp2
HG02559.hp2
others(6): Show 
HG02145.hp1
HG02258.hp2
HG02559.hp2
HG03139.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18906.hp1
NA19240.hp2
intron_variant MODIFIER c.575+17843G>A
c.575+17843G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665379
chr5:156665455 G
G
A
A
1 a0001c0002t0023g0112
a0001c0002t0023g0112
1 HG03098.hp1
HG03098.hp1
intron_variant MODIFIER c.575+17919G>A
c.575+17919G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665455
chr5:156665476 T
T
C
C
1 a0001c0001t0001g0116
a0001c0001t0001g0116
1 HG02055.hp2
HG02055.hp2
intron_variant MODIFIER c.575+17940T>C
c.575+17940T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665476
chr5:156665510 T
T
G
G
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.575+17974T>G
c.575+17974T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665510
chr5:156665611 A
A
G
G
90 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(87): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
90 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(87): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+18075A>G
c.575+18075A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665611
chr5:156665790 T
T
C
C
2 a0001c0001t0021g0046
a0001c0002t0024g0100
a0001c0001t0021g0046
a0001c0002t0024g0100
2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
intron_variant MODIFIER c.575+18254T>C
c.575+18254T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665790
chr5:156665793 C
C
T
T
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.575+18257C>T
c.575+18257C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665793
chr5:156665799 C
C
T
T
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+18263C>T
c.575+18263C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665799
chr5:156665876 G
G
A
A
1 a0001c0002t0015g0081
a0001c0002t0015g0081
1 NA19003.hp2
NA19003.hp2
intron_variant MODIFIER c.575+18340G>A
c.575+18340G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665876
chr5:156665954 T
T
C
C
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+18418T>C
c.575+18418T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665954
chr5:156665970 C
C
T
T
1 a0001c0002t0054g0073
a0001c0002t0054g0073
1 NA18990.hp1
NA18990.hp1
intron_variant MODIFIER c.575+18434C>T
c.575+18434C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156665970
chr5:156666063 C
C
T
T
3 a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0002t0004g0113
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0002t0004g0113
3 HG01070.hp1
HG01071.hp2
HG01169.hp1
HG01070.hp1
HG01071.hp2
HG01169.hp1
intron_variant MODIFIER c.575+18527C>T
c.575+18527C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666063
chr5:156666151 A
A
G
G
129 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
129 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(126): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+18615A>G
c.575+18615A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666151
chr5:156666321 A
A
G
G
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+18785A>G
c.575+18785A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666321
chr5:156666338 AT
AT
A
A
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.575+18803delT
c.575+18803delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666338
chr5:156666343 ATC
ATC
A
A
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.575+18808_575+1880
others(6): Show 
c.575+18808_575+18809delTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666343
chr5:156666346 G
G
A
A
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.575+18810G>A
c.575+18810G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666346
chr5:156666350 T
T
C
C
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.575+18814T>C
c.575+18814T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666350
chr5:156666352 T
T
TGGCATCA
others(140): Show 
TGGCATCATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTGGATATGCA
TACACATAAACATCTCAATGCTTTACAAAGCAGTATTGCTGCCCGCAGGT
CCCACCTCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGC
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.575+18816_575+1881
others(151): Show 
c.575+18816_575+18817insGGCATCATAGACAATGTAAAGGATTA
AGTGCTGTGCTTTTGGATATGCATACACATAAACATCTCAATGCTTTACA
AAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGCGGTTTTT
CCCTATCTCAGTAGATGGAGC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666352
chr5:156666356 C
C
CAAT
CAAT
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.575+18820_575+1882
others(7): Show 
c.575+18820_575+18821insAAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666356
chr5:156666359 A
A
G
G
2 a0001c0001t0001g0050
a0001c0001t0029g0024
a0001c0001t0001g0050
a0001c0001t0029g0024
2 HG03098.hp2
NA18522.hp2
HG03098.hp2
NA18522.hp2
intron_variant MODIFIER c.575+18823A>G
c.575+18823A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666359
chr5:156666476 G
G
A
A
6 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(3): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0042g0065
a0001c0002t0060g0074
6 HG02717.hp2
HG02809.hp1
HG02895.hp1
others(3): Show 
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
intron_variant MODIFIER c.575+18940G>A
c.575+18940G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666476
chr5:156666573 G
G
A
A
19 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(16): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.575+19037G>A
c.575+19037G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666573
chr5:156666631 G
G
A
A
1 a0001c0002t0002g0069
a0001c0002t0002g0069
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.575+19095G>A
c.575+19095G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156666631
chr5:156667090 T
T
C
C
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+19554T>C
c.575+19554T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156667090
chr5:156667407 T
T
C
C
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+19871T>C
c.575+19871T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156667407
chr5:156668045 G
G
A
A
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.575+20509G>A
c.575+20509G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156668045
chr5:156668073 C
C
A
A
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+20537C>A
c.575+20537C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156668073
chr5:156668883 G
G
T
T
1 a0001c0001t0018g0039
a0001c0001t0018g0039
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.575+21347G>T
c.575+21347G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156668883
chr5:156668884 T
T
C
C
1 a0001c0001t0018g0039
a0001c0001t0018g0039
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.575+21348T>C
c.575+21348T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156668884
chr5:156668901 T
T
C
C
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.575+21365T>C
c.575+21365T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156668901
chr5:156668968 C
C
T
T
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0042g0065
a0001c0002t0060g0074
7 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(4): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
intron_variant MODIFIER c.575+21432C>T
c.575+21432C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156668968
chr5:156669054 G
G
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+21518G>T
c.575+21518G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156669054
chr5:156669063 A
A
G
G
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+21527A>G
c.575+21527A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156669063
chr5:156669070 C
C
T
T
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.575+21534C>T
c.575+21534C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156669070
chr5:156669266 C
C
T
T
2 a0001c0001t0006g0041
a0001c0001t0045g0137
a0001c0001t0006g0041
a0001c0001t0045g0137
2 HG01891.hp1
HG03579.hp2
HG01891.hp1
HG03579.hp2
intron_variant MODIFIER c.575+21730C>T
c.575+21730C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156669266
chr5:156669305 C
C
T
T
1 a0001c0002t0015g0081
a0001c0002t0015g0081
1 NA19003.hp2
NA19003.hp2
intron_variant MODIFIER c.575+21769C>T
c.575+21769C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156669305
chr5:156669466 A
A
G
G
18 a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
others(15): Show 
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
18 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(15): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03098.hp2
HG03130.hp2
HG03471.hp2
HG03490.hp2
NA18522.hp2
NA18959.hp1
NA20129.hp1
intron_variant MODIFIER c.575+21930A>G
c.575+21930A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156669466
chr5:156669679 C
C
A
A
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+22143C>A
c.575+22143C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156669679
chr5:156669806 T
T
C
C
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+22270T>C
c.575+22270T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156669806
chr5:156669899 G
G
A
A
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.575+22363G>A
c.575+22363G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156669899
chr5:156669945 C
C
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+22409C>A
c.575+22409C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156669945
chr5:156670220 G
G
T
T
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+22684G>T
c.575+22684G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156670220
chr5:156670235 T
T
G
G
1 a0001c0001t0001g0050
a0001c0001t0001g0050
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.575+22699T>G
c.575+22699T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156670235
chr5:156670594 G
G
A
A
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.575+23058G>A
c.575+23058G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156670594
chr5:156670752 G
G
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+23216G>A
c.575+23216G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156670752
chr5:156670965 A
A
G
G
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0042g0065
a0001c0002t0060g0074
7 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(4): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
intron_variant MODIFIER c.575+23429A>G
c.575+23429A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156670965
chr5:156671143 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+23607T>C
c.575+23607T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156671143
chr5:156671272 C
C
CT
CT
8 a0001c0001t0006g0041
a0001c0001t0020g0017
a0001c0001t0022g0064
others(5): Show 
a0001c0001t0006g0041
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0045g0137
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
8 HG01243.hp2
HG01891.hp1
HG02258.hp1
others(5): Show 
HG01243.hp2
HG01891.hp1
HG02258.hp1
HG02622.hp1
HG03041.hp2
HG03579.hp2
NA19030.hp1
NA20300.hp2
intron_variant MODIFIER c.575+23754dupT
c.575+23754dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156671272
chr5:156671272 C
C
CTT
CTT
24 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(21): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0021g0027
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0006t0018g0145
24 HG00558.hp2
HG00639.hp2
HG02055.hp1
others(21): Show 
HG00558.hp2
HG00639.hp2
HG02055.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02257.hp1
HG02723.hp2
HG02965.hp2
HG03130.hp2
HG03453.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.575+23753_575+2375
others(6): Show 
c.575+23753_575+23754dupTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156671272
chr5:156671272 CT
CT
C
C
85 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(82): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
85 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(82): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+23754delT
c.575+23754delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156671272
chr5:156671303 C
C
T
T
3 a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0002t0022g0029
3 HG03041.hp2
NA19030.hp1
NA20300.hp2
HG03041.hp2
NA19030.hp1
NA20300.hp2
intron_variant MODIFIER c.575+23767C>T
c.575+23767C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156671303
chr5:156671480 G
G
A
A
1 a0001c0002t0011g0051
a0001c0002t0011g0051
1 HG02071.hp2
HG02071.hp2
intron_variant MODIFIER c.575+23944G>A
c.575+23944G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156671480
chr5:156671522 C
C
A
A
1 a0001c0002t0010g0108
a0001c0002t0010g0108
1 NA19002.hp1
NA19002.hp1
intron_variant MODIFIER c.575+23986C>A
c.575+23986C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156671522
chr5:156671698 T
T
G
G
99 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(96): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
99 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(96): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+24162T>G
c.575+24162T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156671698
chr5:156671760 A
A
T
T
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+24224A>T
c.575+24224A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156671760
chr5:156671970 C
C
A
A
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.575+24434C>A
c.575+24434C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156671970
chr5:156672221 T
T
C
C
1 a0001c0001t0018g0039
a0001c0001t0018g0039
1 NA19030.hp2
NA19030.hp2
intron_variant MODIFIER c.575+24685T>C
c.575+24685T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156672221
chr5:156672897 A
A
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+25361A>T
c.575+25361A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156672897
chr5:156672903 C
C
G
G
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+25367C>G
c.575+25367C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156672903
chr5:156672989 C
C
T
T
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(7): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+25453C>T
c.575+25453C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156672989
chr5:156673119 A
A
T
T
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.575+25583A>T
c.575+25583A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673119
chr5:156673150 T
T
A
A
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+25614T>A
c.575+25614T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673150
chr5:156673249 C
C
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+25713C>G
c.575+25713C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673249
chr5:156673283 G
G
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+25747G>A
c.575+25747G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673283
chr5:156673409 C
C
G
G
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0042g0065
a0001c0002t0060g0074
7 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(4): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
intron_variant MODIFIER c.575+25873C>G
c.575+25873C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673409
chr5:156673446 G
G
A
A
2 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0058
a0001c0001t0001g0143
2 HG02559.hp2
HG03579.hp1
HG02559.hp2
HG03579.hp1
intron_variant MODIFIER c.575+25910G>A
c.575+25910G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673446
chr5:156673463 G
G
C
C
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.575+25927G>C
c.575+25927G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673463
chr5:156673607 A
A
T
T
1 a0001c0001t0001g0008
a0001c0001t0001g0008
1 NA18522.hp1
NA18522.hp1
intron_variant MODIFIER c.575+26071A>T
c.575+26071A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673607
chr5:156673733 A
A
C
C
1 a0001c0002t0002g0095
a0001c0002t0002g0095
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.575+26197A>C
c.575+26197A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673733
chr5:156673748 C
C
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+26212C>T
c.575+26212C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673748
chr5:156673776 T
T
A
A
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0042g0065
a0001c0002t0060g0074
7 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(4): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
intron_variant MODIFIER c.575+26240T>A
c.575+26240T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673776
chr5:156673797 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+26261T>C
c.575+26261T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673797
chr5:156673849 A
A
G
G
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+26313A>G
c.575+26313A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673849
chr5:156673929 C
C
A
A
7 a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
others(4): Show 
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0059g0002
a0004c0007t0020g0012
7 HG01261.hp2
HG01516.hp2
HG01978.hp2
others(4): Show 
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02056.hp1
HG03490.hp2
NA18959.hp1
intron_variant MODIFIER c.575+26393C>A
c.575+26393C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156673929
chr5:156674421 A
A
G
G
1 a0001c0002t0004g0113
a0001c0002t0004g0113
1 HG01071.hp2
HG01071.hp2
intron_variant MODIFIER c.575+26885A>G
c.575+26885A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156674421
chr5:156674656 T
T
G
G
1 a0001c0002t0004g0113
a0001c0002t0004g0113
1 HG01071.hp2
HG01071.hp2
intron_variant MODIFIER c.575+27120T>G
c.575+27120T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156674656
chr5:156674683 T
T
A
A
2 a0001c0001t0006g0066
a0001c0001t0042g0065
a0001c0001t0006g0066
a0001c0001t0042g0065
2 HG02922.hp2
HG02970.hp1
HG02922.hp2
HG02970.hp1
intron_variant MODIFIER c.575+27147T>A
c.575+27147T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156674683
chr5:156674735 T
T
C
C
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0042g0065
a0001c0002t0060g0074
7 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(4): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
intron_variant MODIFIER c.575+27199T>C
c.575+27199T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156674735
chr5:156674812 T
T
C
C
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+27276T>C
c.575+27276T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156674812
chr5:156675087 T
T
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+27551T>C
c.575+27551T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156675087
chr5:156675245 C
C
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+27709C>T
c.575+27709C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156675245
chr5:156675257 G
G
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+27721G>T
c.575+27721G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156675257
chr5:156675702 C
C
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+28166C>A
c.575+28166C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156675702
chr5:156675744 G
G
A
A
5 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
others(2): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0042g0065
5 HG02622.hp1
HG02809.hp1
HG02895.hp1
others(2): Show 
HG02622.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
intron_variant MODIFIER c.575+28208G>A
c.575+28208G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156675744
chr5:156675972 G
G
A
A
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+28436G>A
c.575+28436G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156675972
chr5:156676029 A
A
G
G
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+28493A>G
c.575+28493A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676029
chr5:156676071 A
A
T
T
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.575+28535A>T
c.575+28535A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676071
chr5:156676113 G
G
A
A
5 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
others(2): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0042g0065
5 HG02622.hp1
HG02809.hp1
HG02895.hp1
others(2): Show 
HG02622.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
intron_variant MODIFIER c.575+28577G>A
c.575+28577G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676113
chr5:156676126 C
C
T
T
146 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(143): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
146 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(143): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+28590C>T
c.575+28590C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676126
chr5:156676212 T
T
C
C
1 a0001c0002t0002g0075
a0001c0002t0002g0075
1 NA19009.hp2
NA19009.hp2
intron_variant MODIFIER c.575+28676T>C
c.575+28676T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676212
chr5:156676215 G
G
A
A
92 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(89): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
92 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(89): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+28679G>A
c.575+28679G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676215
chr5:156676244 C
C
T
T
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+28708C>T
c.575+28708C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676244
chr5:156676359 T
T
C
C
3 a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0006t0018g0145
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0006t0018g0145
3 HG02055.hp1
HG02257.hp1
NA19043.hp1
HG02055.hp1
HG02257.hp1
NA19043.hp1
intron_variant MODIFIER c.575+28823T>C
c.575+28823T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676359
chr5:156676453 C
C
T
T
3 a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0040g0131
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0040g0131
3 HG01081.hp2
HG01109.hp1
HG03239.hp2
HG01081.hp2
HG01109.hp1
HG03239.hp2
intron_variant MODIFIER c.575+28917C>T
c.575+28917C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676453
chr5:156676600 C
C
T
T
14 a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0012g0059
others(11): Show 
a0001c0001t0003g0125
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0030g0135
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
14 HG01081.hp2
HG01109.hp1
HG01243.hp1
others(11): Show 
HG01081.hp2
HG01109.hp1
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03239.hp2
NA19240.hp1
intron_variant MODIFIER c.575+29064C>T
c.575+29064C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676600
chr5:156676766 G
G
A
A
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+29230G>A
c.575+29230G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676766
chr5:156676884 T
T
C
C
13 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
others(10): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
13 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(10): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03490.hp2
NA18959.hp1
intron_variant MODIFIER c.575+29348T>C
c.575+29348T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676884
chr5:156676957 G
G
A
A
1 a0001c0002t0002g0107
a0001c0002t0002g0107
1 HG02129.hp1
HG02129.hp1
intron_variant MODIFIER c.575+29421G>A
c.575+29421G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156676957
chr5:156677269 G
G
T
T
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+29733G>T
c.575+29733G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156677269
chr5:156677313 C
C
T
T
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.575+29777C>T
c.575+29777C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156677313
chr5:156677352 C
C
A
A
1 a0001c0001t0012g0010
a0001c0001t0012g0010
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.575+29816C>A
c.575+29816C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156677352
chr5:156677358 C
C
T
T
2 a0001c0001t0047g0003
a0001c0002t0044g0026
a0001c0001t0047g0003
a0001c0002t0044g0026
2 HG03471.hp2
NA20129.hp1
HG03471.hp2
NA20129.hp1
intron_variant MODIFIER c.575+29822C>T
c.575+29822C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156677358
chr5:156677400 A
A
AAAACTAT
others(17): Show 
AAAACTATCGCAAGGACAGAAAACC
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.575+29893_575+2991
others(28): Show 
c.575+29893_575+29916dupTATCGCAAGGACAGAAAACCAAAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156677400
chr5:156677457 C
C
A
A
1 a0001c0002t0051g0099
a0001c0002t0051g0099
1 NA19066.hp2
NA19066.hp2
intron_variant MODIFIER c.575+29921C>A
c.575+29921C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156677457
chr5:156677682 T
T
C
C
8 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
others(5): Show 
a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0029g0024
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
8 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(5): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
HG03098.hp2
HG03130.hp2
NA18522.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+30146T>C
c.575+30146T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156677682
chr5:156677691 A
A
T
T
4 a0001c0001t0001g0052
a0001c0001t0009g0049
a0001c0001t0014g0048
others(1): Show 
a0001c0001t0001g0052
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0002t0002g0061
4 HG02257.hp2
HG02723.hp1
HG03139.hp2
others(1): Show 
HG02257.hp2
HG02723.hp1
HG03139.hp2
HG03486.hp2
intron_variant MODIFIER c.575+30155A>T
c.575+30155A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156677691
chr5:156677769 T
T
C
C
147 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(144): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
147 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(144): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+30233T>C
c.575+30233T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156677769
chr5:156678428 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+30892T>C
c.575+30892T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156678428
chr5:156678613 A
A
G
G
5 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
others(2): Show 
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
5 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(2): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.575+31077A>G
c.575+31077A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156678613
chr5:156678860 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+31324A>G
c.575+31324A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156678860
chr5:156679095 A
A
G
G
1 a0001c0002t0002g0098
a0001c0002t0002g0098
1 NA18964.hp1
NA18964.hp1
intron_variant MODIFIER c.575+31559A>G
c.575+31559A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156679095
chr5:156679763 C
C
CTTTCTTG
others(15): Show 
CTTTCTTGCTTTTCTTCTCCACT
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+32234_575+3225
others(26): Show 
c.575+32234_575+32255dupGCTTTTCTTCTCCACTTTTCTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156679763
chr5:156679888 T
T
C
C
1 a0001c0002t0058g0089
a0001c0002t0058g0089
1 HG02145.hp2
HG02145.hp2
intron_variant MODIFIER c.575+32352T>C
c.575+32352T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156679888
chr5:156680373 C
C
T
T
15 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
others(12): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
15 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(12): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03471.hp2
HG03490.hp2
NA18959.hp1
NA20129.hp1
intron_variant MODIFIER c.575+32837C>T
c.575+32837C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156680373
chr5:156680473 T
T
C
C
1 a0001c0002t0058g0089
a0001c0002t0058g0089
1 HG02145.hp2
HG02145.hp2
intron_variant MODIFIER c.575+32937T>C
c.575+32937T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156680473
chr5:156680590 A
A
C
C
1 a0001c0002t0015g0086
a0001c0002t0015g0086
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.575+33054A>C
c.575+33054A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156680590
chr5:156680593 C
C
T
T
1 a0001c0001t0041g0028
a0001c0001t0041g0028
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.575+33057C>T
c.575+33057C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156680593
chr5:156680621 A
A
G
G
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0042g0065
a0001c0002t0060g0074
7 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(4): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
intron_variant MODIFIER c.575+33085A>G
c.575+33085A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156680621
chr5:156680628 A
A
G
G
6 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(3): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0042g0065
a0001c0002t0060g0074
6 HG02717.hp2
HG02809.hp1
HG02895.hp1
others(3): Show 
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
intron_variant MODIFIER c.575+33092A>G
c.575+33092A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156680628
chr5:156680796 G
G
A
A
2 a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0010g0005
a0001c0002t0024g0063
2 NA18953.hp1
NA19003.hp1
NA18953.hp1
NA19003.hp1
intron_variant MODIFIER c.575+33260G>A
c.575+33260G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156680796
chr5:156681125 T
T
C
C
1 a0001c0002t0013g0032
a0001c0002t0013g0032
1 HG03130.hp1
HG03130.hp1
intron_variant MODIFIER c.575+33589T>C
c.575+33589T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156681125
chr5:156681207 T
T
C
C
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.575+33671T>C
c.575+33671T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156681207
chr5:156681343 C
C
T
T
88 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(85): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
88 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(85): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+33807C>T
c.575+33807C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156681343
chr5:156681350 G
G
C
C
1 a0001c0001t0003g0119
a0001c0001t0003g0119
1 HG02735.hp2
HG02735.hp2
intron_variant MODIFIER c.575+33814G>C
c.575+33814G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156681350
chr5:156681413 C
C
T
T
1 a0001c0001t0006g0040
a0001c0001t0006g0040
1 HG03471.hp1
HG03471.hp1
intron_variant MODIFIER c.575+33877C>T
c.575+33877C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156681413
chr5:156681432 C
C
G
G
5 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
others(2): Show 
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
5 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(2): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.575+33896C>G
c.575+33896C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156681432
chr5:156681613 C
C
T
T
23 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(20): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
23 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(20): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+34077C>T
c.575+34077C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156681613
chr5:156681634 T
T
A
A
4 a0001c0001t0001g0052
a0001c0001t0009g0049
a0001c0001t0014g0048
others(1): Show 
a0001c0001t0001g0052
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0002t0002g0061
4 HG02257.hp2
HG02723.hp1
HG03139.hp2
others(1): Show 
HG02257.hp2
HG02723.hp1
HG03139.hp2
HG03486.hp2
intron_variant MODIFIER c.575+34098T>A
c.575+34098T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156681634
chr5:156681856 G
G
C
C
1 a0001c0002t0002g0102
a0001c0002t0002g0102
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.575+34320G>C
c.575+34320G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156681856
chr5:156681906 G
G
A
A
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+34370G>A
c.575+34370G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156681906
chr5:156682014 T
T
G
G
2 a0001c0001t0047g0003
a0001c0002t0044g0026
a0001c0001t0047g0003
a0001c0002t0044g0026
2 HG03471.hp2
NA20129.hp1
HG03471.hp2
NA20129.hp1
intron_variant MODIFIER c.575+34478T>G
c.575+34478T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156682014
chr5:156682181 A
A
G
G
23 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(20): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
23 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(20): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+34645A>G
c.575+34645A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156682181
chr5:156682609 T
T
A
A
2 a0001c0001t0001g0117
a0001c0002t0060g0074
a0001c0001t0001g0117
a0001c0002t0060g0074
2 HG02717.hp2
HG02965.hp1
HG02717.hp2
HG02965.hp1
intron_variant MODIFIER c.575+35073T>A
c.575+35073T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156682609
chr5:156682697 A
A
G
G
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.575+35161A>G
c.575+35161A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156682697
chr5:156682698 T
T
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+35162T>C
c.575+35162T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156682698
chr5:156682707 T
T
C
C
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+35171T>C
c.575+35171T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156682707
chr5:156682800 T
T
TA
TA
91 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(88): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
91 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(88): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+35266dupA
c.575+35266dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156682800
chr5:156682831 C
C
T
T
13 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
others(10): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0046g0121
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
13 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(10): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02735.hp1
HG03490.hp2
NA18959.hp1
intron_variant MODIFIER c.575+35295C>T
c.575+35295C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156682831
chr5:156682836 G
G
A
A
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+35300G>A
c.575+35300G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156682836
chr5:156682910 G
G
A
A
5 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
others(2): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
5 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(2): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+35374G>A
c.575+35374G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156682910
chr5:156683168 A
A
T
T
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+35632A>T
c.575+35632A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156683168
chr5:156683321 T
T
A
A
7 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(4): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0020g0017
a0001c0001t0042g0065
a0001c0002t0060g0074
7 HG02622.hp1
HG02717.hp2
HG02809.hp1
others(4): Show 
HG02622.hp1
HG02717.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
intron_variant MODIFIER c.575+35785T>A
c.575+35785T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156683321
chr5:156683732 G
G
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+36196G>A
c.575+36196G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156683732
chr5:156683882 T
T
C
C
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.575+36346T>C
c.575+36346T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156683882
chr5:156683955 C
C
T
T
2 a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0014g0055
a0001c0001t0014g0132
2 HG01070.hp1
HG01169.hp1
HG01070.hp1
HG01169.hp1
intron_variant MODIFIER c.575+36419C>T
c.575+36419C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156683955
chr5:156684009 G
G
A
A
12 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
12 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(9): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19240.hp1
intron_variant MODIFIER c.575+36473G>A
c.575+36473G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156684009
chr5:156684194 C
C
T
T
2 a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0014g0055
a0001c0001t0014g0132
2 HG01070.hp1
HG01169.hp1
HG01070.hp1
HG01169.hp1
intron_variant MODIFIER c.575+36658C>T
c.575+36658C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156684194
chr5:156684212 T
T
C
C
104 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(101): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
104 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(101): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+36676T>C
c.575+36676T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156684212
chr5:156684227 T
T
C
C
104 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(101): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
104 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(101): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+36691T>C
c.575+36691T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156684227
chr5:156684300 G
G
C
C
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+36764G>C
c.575+36764G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156684300
chr5:156684399 C
C
T
T
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.575+36863C>T
c.575+36863C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156684399
chr5:156684419 G
G
A
A
1 a0001c0001t0001g0050
a0001c0001t0001g0050
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.575+36883G>A
c.575+36883G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156684419
chr5:156684439 T
T
C
C
3 a0001c0001t0005g0047
a0001c0002t0004g0088
a0001c0002t0004g0114
a0001c0001t0005g0047
a0001c0002t0004g0088
a0001c0002t0004g0114
3 HG00639.hp1
HG01258.hp2
HG01261.hp1
HG00639.hp1
HG01258.hp2
HG01261.hp1
intron_variant MODIFIER c.575+36903T>C
c.575+36903T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156684439
chr5:156685052 A
A
G
G
92 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(89): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
92 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(89): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+37516A>G
c.575+37516A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156685052
chr5:156685077 C
C
G
G
14 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(11): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0042g0065
a0001c0002t0022g0029
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0006t0018g0145
14 HG02055.hp1
HG02257.hp1
HG02622.hp1
others(11): Show 
HG02055.hp1
HG02257.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
NA18906.hp2
NA19043.hp1
NA20300.hp2
intron_variant MODIFIER c.575+37541C>G
c.575+37541C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156685077
chr5:156685078 G
G
A
A
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(7): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+37542G>A
c.575+37542G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156685078
chr5:156685593 C
C
T
T
5 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
others(2): Show 
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
5 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(2): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.575+38057C>T
c.575+38057C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156685593
chr5:156685689 T
T
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.575+38153T>C
c.575+38153T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156685689
chr5:156685690 G
G
C
C
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
22 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(19): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+38154G>C
c.575+38154G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156685690
chr5:156685727 C
C
G
G
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+38191C>G
c.575+38191C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156685727
chr5:156685755 T
T
A
A
33 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(30): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
33 HG00558.hp2
HG00639.hp2
HG01243.hp1
others(30): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp1
HG01243.hp2
HG01891.hp1
HG01981.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp2
intron_variant MODIFIER c.575+38219T>A
c.575+38219T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156685755
chr5:156685780 G
G
A
A
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.575+38244G>A
c.575+38244G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156685780
chr5:156685968 C
C
T
T
1 a0002c0003t0003g0140
a0002c0003t0003g0140
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.575+38432C>T
c.575+38432C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156685968
chr5:156686091 G
G
A
A
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+38555G>A
c.575+38555G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156686091
chr5:156686210 G
G
A
A
44 a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0005g0129
others(41): Show 
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0006t0018g0145
44 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(41): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03453.hp1
HG03490.hp2
HG03579.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.575+38674G>A
c.575+38674G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156686210
chr5:156686621 A
A
T
T
89 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(86): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
89 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(86): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+39085A>T
c.575+39085A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156686621
chr5:156686751 G
G
A
A
15 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(12): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0055g0091
15 HG00558.hp2
HG00639.hp2
HG02083.hp2
others(12): Show 
HG00558.hp2
HG00639.hp2
HG02083.hp2
HG02155.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.575+39215G>A
c.575+39215G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156686751
chr5:156686798 T
T
C
C
117 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(114): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
117 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(114): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+39262T>C
c.575+39262T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156686798
chr5:156687057 C
C
T
T
17 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
others(14): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0020g0017
a0001c0001t0026g0016
a0001c0001t0032g0020
a0001c0001t0042g0065
a0001c0002t0005g0082
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
17 HG02055.hp1
HG02056.hp1
HG02257.hp1
others(14): Show 
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02622.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03098.hp1
HG03490.hp2
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19043.hp1
intron_variant MODIFIER c.575+39521C>T
c.575+39521C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156687057
chr5:156687078 C
C
G
G
23 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(20): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
23 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(20): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+39542C>G
c.575+39542C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156687078
chr5:156687257 T
T
C
C
1 a0001c0001t0007g0123
a0001c0001t0007g0123
1 NA19011.hp2
NA19011.hp2
intron_variant MODIFIER c.575+39721T>C
c.575+39721T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156687257
chr5:156687309 G
G
A
A
1 a0003c0005t0001g0148
a0003c0005t0001g0148
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.575+39773G>A
c.575+39773G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156687309
chr5:156687653 C
C
G
G
2 a0001c0002t0002g0098
a0001c0002t0023g0071
a0001c0002t0002g0098
a0001c0002t0023g0071
2 HG01981.hp2
NA18964.hp1
HG01981.hp2
NA18964.hp1
intron_variant MODIFIER c.575+40117C>G
c.575+40117C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156687653
chr5:156687807 G
G
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+40271G>A
c.575+40271G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156687807
chr5:156687821 T
T
A
A
107 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(104): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
107 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(104): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+40285T>A
c.575+40285T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156687821
chr5:156687996 T
T
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+40460T>A
c.575+40460T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156687996
chr5:156688034 G
G
A
A
19 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(16): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
19 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(16): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.575+40498G>A
c.575+40498G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156688034
chr5:156688126 G
G
A
A
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+40590G>A
c.575+40590G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156688126
chr5:156688247 A
A
G
G
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.575+40711A>G
c.575+40711A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156688247
chr5:156688335 C
C
T
T
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+40799C>T
c.575+40799C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156688335
chr5:156688439 C
C
G
G
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+40903C>G
c.575+40903C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156688439
chr5:156688592 G
G
A
A
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+41056G>A
c.575+41056G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156688592
chr5:156688746 G
G
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+41210G>A
c.575+41210G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156688746
chr5:156689052 T
T
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+41516T>A
c.575+41516T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689052
chr5:156689130 A
A
C
C
3 a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0006t0018g0145
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0006t0018g0145
3 HG02055.hp1
HG02257.hp1
NA19043.hp1
HG02055.hp1
HG02257.hp1
NA19043.hp1
intron_variant MODIFIER c.575+41594A>C
c.575+41594A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689130
chr5:156689215 A
A
C
C
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.575+41679A>C
c.575+41679A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689215
chr5:156689283 A
A
G
G
6 a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(3): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19030.hp1
intron_variant MODIFIER c.575+41747A>G
c.575+41747A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689283
chr5:156689337 T
T
A
A
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+41801T>A
c.575+41801T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689337
chr5:156689401 C
C
T
T
86 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(83): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
86 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(83): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+41865C>T
c.575+41865C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689401
chr5:156689473 G
G
A
A
2 a0001c0001t0032g0020
a0001c0002t0005g0082
a0001c0001t0032g0020
a0001c0002t0005g0082
2 HG02056.hp1
HG03490.hp2
HG02056.hp1
HG03490.hp2
intron_variant MODIFIER c.575+41937G>A
c.575+41937G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689473
chr5:156689512 G
G
T
T
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+41976G>T
c.575+41976G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689512
chr5:156689631 A
A
G
G
16 a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
others(13): Show 
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
16 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(13): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02145.hp2
HG02735.hp1
HG03098.hp2
HG03130.hp2
HG03471.hp2
NA18522.hp2
NA18959.hp1
NA20129.hp1
intron_variant MODIFIER c.575+42095A>G
c.575+42095A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689631
chr5:156689718 C
C
T
T
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+42182C>T
c.575+42182C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689718
chr5:156689773 A
A
T
T
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+42237A>T
c.575+42237A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689773
chr5:156689793 G
G
C
C
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+42257G>C
c.575+42257G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689793
chr5:156689880 G
G
A
A
4 a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
others(1): Show 
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0002t0056g0096
4 HG02698.hp1
HG02897.hp2
HG03704.hp1
others(1): Show 
HG02698.hp1
HG02897.hp2
HG03704.hp1
NA20805.hp1
intron_variant MODIFIER c.575+42344G>A
c.575+42344G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689880
chr5:156689981 A
A
G
G
11 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
others(8): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0032g0020
a0001c0001t0042g0065
a0001c0002t0005g0082
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
11 HG02055.hp1
HG02056.hp1
HG02257.hp1
others(8): Show 
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03490.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+42445A>G
c.575+42445A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156689981
chr5:156690090 A
A
G
G
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+42554A>G
c.575+42554A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156690090
chr5:156690189 G
G
C
C
87 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(84): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
87 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(84): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+42653G>C
c.575+42653G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156690189
chr5:156690420 T
T
A
A
89 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(86): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
89 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(86): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+42884T>A
c.575+42884T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156690420
chr5:156690423 G
G
A
A
2 a0001c0001t0047g0003
a0001c0002t0044g0026
a0001c0001t0047g0003
a0001c0002t0044g0026
2 HG03471.hp2
NA20129.hp1
HG03471.hp2
NA20129.hp1
intron_variant MODIFIER c.575+42887G>A
c.575+42887G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156690423
chr5:156690436 T
T
C
C
112 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(109): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
112 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(109): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+42900T>C
c.575+42900T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156690436
chr5:156690603 T
T
C
C
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+43067T>C
c.575+43067T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156690603
chr5:156690604 G
G
T
T
11 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
others(8): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0032g0020
a0001c0001t0042g0065
a0001c0002t0005g0082
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
11 HG02055.hp1
HG02056.hp1
HG02257.hp1
others(8): Show 
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03490.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+43068G>T
c.575+43068G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156690604
chr5:156690929 G
G
T
T
4 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
others(1): Show 
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
4 HG02698.hp2
NA18990.hp2
NA19002.hp1
others(1): Show 
HG02698.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.575+43393G>T
c.575+43393G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156690929
chr5:156690949 G
G
A
A
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
22 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(19): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+43413G>A
c.575+43413G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156690949
chr5:156690986 T
T
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+43450T>C
c.575+43450T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156690986
chr5:156690997 A
A
G
G
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
22 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(19): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+43461A>G
c.575+43461A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156690997
chr5:156691206 C
C
CAAAA
CAAAA
5 a0001c0001t0007g0126
a0001c0002t0008g0101
a0001c0002t0011g0083
others(2): Show 
a0001c0001t0007g0126
a0001c0002t0008g0101
a0001c0002t0011g0083
a0001c0002t0023g0112
a0001c0002t0055g0091
5 HG00558.hp2
HG02155.hp2
HG02258.hp1
others(2): Show 
HG00558.hp2
HG02155.hp2
HG02258.hp1
HG03098.hp1
NA18959.hp2
intron_variant MODIFIER c.575+43687_575+4369
others(8): Show 
c.575+43687_575+43690dupAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156691206
chr5:156691206 C
C
CAAAAA
CAAAAA
17 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(14): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0010g0005
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
17 HG00639.hp2
HG01243.hp2
HG01891.hp1
others(14): Show 
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA20129.hp2
intron_variant MODIFIER c.575+43686_575+4369
others(9): Show 
c.575+43686_575+43690dupAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156691206
chr5:156691206 C
C
CAAAAAAA
CAAAAAAA
16 a0001c0001t0001g0023
a0001c0001t0003g0056
a0001c0001t0003g0119
others(13): Show 
a0001c0001t0001g0023
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0002t0002g0095
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0015g0081
a0001c0002t0028g0034
16 HG01070.hp1
HG01070.hp2
HG01071.hp1
others(13): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02717.hp1
HG02735.hp2
HG02922.hp2
HG03239.hp1
HG03704.hp2
HG04115.hp1
NA19003.hp2
intron_variant MODIFIER c.575+43684_575+4369
others(11): Show 
c.575+43684_575+43690dupAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156691206
chr5:156691206 C
C
CAAAAAAA
others(1): Show 
CAAAAAAAA
78 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(75): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0018g0039
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0008g0006
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
78 HG00558.hp1
HG00639.hp1
HG01081.hp1
others(75): Show 
HG00558.hp1
HG00639.hp1
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+43683_575+4369
others(12): Show 
c.575+43683_575+43690dupAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156691206
chr5:156691206 C
C
CAAAAAAA
others(2): Show 
CAAAAAAAAA
15 a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
others(12): Show 
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0009g0142
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0021g0046
a0001c0001t0032g0020
a0001c0002t0002g0109
a0001c0002t0005g0082
a0001c0002t0008g0076
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0006t0018g0145
15 HG01243.hp1
HG01256.hp1
HG01258.hp1
others(12): Show 
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02145.hp1
HG02257.hp1
HG02965.hp1
HG03225.hp1
HG03490.hp2
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
intron_variant MODIFIER c.575+43682_575+4369
others(13): Show 
c.575+43682_575+43690dupAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156691206
chr5:156691206 C
C
CAAAAAAA
others(3): Show 
CAAAAAAAAAA
1 a0001c0001t0001g0117
a0001c0001t0001g0117
1 HG02717.hp2
HG02717.hp2
intron_variant MODIFIER c.575+43681_575+4369
others(14): Show 
c.575+43681_575+43690dupAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156691206
chr5:156691225 A
A
G
G
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+43689A>G
c.575+43689A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156691225
chr5:156691227 G
G
A
A
1 a0001c0002t0010g0108
a0001c0002t0010g0108
1 NA19002.hp1
NA19002.hp1
intron_variant MODIFIER c.575+43691G>A
c.575+43691G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156691227
chr5:156691239 A
A
G
G
7 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0032g0020
others(4): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0032g0020
a0001c0002t0005g0082
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
7 HG02055.hp1
HG02056.hp1
HG02257.hp1
others(4): Show 
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02723.hp2
HG03490.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+43703A>G
c.575+43703A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156691239
chr5:156691421 C
C
T
T
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+43885C>T
c.575+43885C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156691421
chr5:156691487 A
A
G
G
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
22 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(19): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+43951A>G
c.575+43951A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156691487
chr5:156691529 T
T
C
C
28 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(25): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
28 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(25): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02698.hp2
HG02965.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+43993T>C
c.575+43993T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156691529
chr5:156691640 T
T
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+44104T>C
c.575+44104T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156691640
chr5:156691799 G
G
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+44263G>C
c.575+44263G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156691799
chr5:156691966 CTT
CTT
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+44431_575+4443
others(6): Show 
c.575+44431_575+44432delTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156691966
chr5:156691986 A
A
G
G
112 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(109): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
112 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(109): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+44450A>G
c.575+44450A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156691986
chr5:156692308 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.575+44772A>G
c.575+44772A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156692308
chr5:156692372 A
A
G
G
1 a0001c0001t0030g0135
a0001c0001t0030g0135
1 HG03239.hp2
HG03239.hp2
intron_variant MODIFIER c.575+44836A>G
c.575+44836A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156692372
chr5:156692432 G
G
A
A
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.575+44896G>A
c.575+44896G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156692432
chr5:156692449 C
C
T
T
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+44913C>T
c.575+44913C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156692449
chr5:156692486 A
A
T
T
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+44950A>T
c.575+44950A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156692486
chr5:156692765 T
T
C
C
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+45229T>C
c.575+45229T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156692765
chr5:156693190 T
T
C
C
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.575+45654T>C
c.575+45654T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156693190
chr5:156693354 G
G
A
A
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
22 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(19): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+45818G>A
c.575+45818G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156693354
chr5:156693595 A
A
G
G
4 a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
others(1): Show 
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0002t0056g0096
4 HG02698.hp1
HG02897.hp2
HG03704.hp1
others(1): Show 
HG02698.hp1
HG02897.hp2
HG03704.hp1
NA20805.hp1
intron_variant MODIFIER c.575+46059A>G
c.575+46059A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156693595
chr5:156693598 C
C
G
G
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+46062C>G
c.575+46062C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156693598
chr5:156693601 C
C
T
T
1 a0001c0001t0034g0118
a0001c0001t0034g0118
1 HG01256.hp2
HG01256.hp2
intron_variant MODIFIER c.575+46065C>T
c.575+46065C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156693601
chr5:156693632 A
A
G
G
2 a0001c0001t0021g0046
a0001c0002t0024g0100
a0001c0001t0021g0046
a0001c0002t0024g0100
2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
intron_variant MODIFIER c.575+46096A>G
c.575+46096A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156693632
chr5:156693905 T
T
C
C
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+46369T>C
c.575+46369T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156693905
chr5:156693982 C
C
G
G
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+46446C>G
c.575+46446C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156693982
chr5:156694176 C
C
T
T
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+46640C>T
c.575+46640C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156694176
chr5:156694258 C
C
T
T
98 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(95): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
98 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(95): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+46722C>T
c.575+46722C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156694258
chr5:156694463 T
T
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+46927T>A
c.575+46927T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156694463
chr5:156694635 T
T
C
C
16 a0001c0001t0001g0050
a0001c0001t0006g0038
a0001c0001t0006g0066
others(13): Show 
a0001c0001t0001g0050
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0042g0065
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0022g0029
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
16 HG02055.hp1
HG02056.hp1
HG02257.hp1
others(13): Show 
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03490.hp2
NA18522.hp2
NA18906.hp2
NA19043.hp1
NA20300.hp2
intron_variant MODIFIER c.575+47099T>C
c.575+47099T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156694635
chr5:156694826 C
C
T
T
147 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(144): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
147 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(144): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+47290C>T
c.575+47290C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156694826
chr5:156695112 T
T
TTGTG
TTGTG
5 a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0002t0010g0001
others(2): Show 
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
5 HG02698.hp2
NA18990.hp2
NA19002.hp1
others(2): Show 
HG02698.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19030.hp1
intron_variant MODIFIER c.575+47598_575+4760
others(8): Show 
c.575+47598_575+47601dupGTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695112
chr5:156695136 G
G
T
T
6 a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0036g0043
others(3): Show 
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0036g0043
a0001c0002t0022g0029
a0001c0002t0052g0111
a0001c0002t0060g0074
6 HG02258.hp2
HG02965.hp1
HG03453.hp2
others(3): Show 
HG02258.hp2
HG02965.hp1
HG03453.hp2
HG03471.hp1
NA18906.hp1
NA20300.hp2
intron_variant MODIFIER c.575+47600G>T
c.575+47600G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156695136
chr5:156695138 T
T
G
G
7 a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0022g0064
others(4): Show 
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0022g0064
a0001c0001t0036g0043
a0001c0002t0022g0029
a0001c0002t0052g0111
a0001c0002t0060g0074
7 HG02258.hp2
HG02965.hp1
HG03041.hp2
others(4): Show 
HG02258.hp2
HG02965.hp1
HG03041.hp2
HG03453.hp2
HG03471.hp1
NA18906.hp1
NA20300.hp2
intron_variant MODIFIER c.575+47602T>G
c.575+47602T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156695138
chr5:156695138 T
T
TTG
TTG
88 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(85): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
88 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(85): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+47622_575+4762
others(6): Show 
c.575+47622_575+47623dupGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695138
chr5:156695138 TTGTGTG
TTGTGTG
T
T
2 a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0129
a0001c0001t0005g0130
2 NA19009.hp1
NA19057.hp2
NA19009.hp1
NA19057.hp2
intron_variant MODIFIER c.575+47618_575+4762
others(10): Show 
c.575+47618_575+47623delGTGTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695138
chr5:156695399 A
A
G
G
1 a0001c0002t0028g0034
a0001c0002t0028g0034
1 HG02717.hp1
HG02717.hp1
intron_variant MODIFIER c.575+47863A>G
c.575+47863A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156695399
chr5:156695483 CGATAGAT
others(21): Show 
CGATAGATAGATAGATAGATAGATAGATG
C
C
5 a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0002t0010g0001
others(2): Show 
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
5 HG02698.hp2
NA18990.hp2
NA19002.hp1
others(2): Show 
HG02698.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA20129.hp2
intron_variant MODIFIER c.575+47975_575+4800
others(32): Show 
c.575+47975_575+48002delGGATAGATAGATAGATAGATAGATAG
AT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695483
chr5:156695487 AGATAGAT
others(17): Show 
AGATAGATAGATAGATAGATAGATG
A
A
20 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(17): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
20 HG00558.hp2
HG01243.hp2
HG01891.hp1
others(17): Show 
HG00558.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19090.hp1
intron_variant MODIFIER c.575+47975_575+4799
others(28): Show 
c.575+47975_575+47998delGGATAGATAGATAGATAGATAGAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695487
chr5:156695491 AGATAGAT
others(13): Show 
AGATAGATAGATAGATAGATG
A
A
15 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0007g0138
others(12): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0005g0082
a0001c0002t0022g0029
a0001c0002t0050g0072
a0001c0006t0018g0145
15 HG00639.hp2
HG02055.hp1
HG02056.hp1
others(12): Show 
HG00639.hp2
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03490.hp2
NA19030.hp1
NA19043.hp1
NA19066.hp1
NA20300.hp2
intron_variant MODIFIER c.575+47975_575+4799
others(24): Show 
c.575+47975_575+47994delGGATAGATAGATAGATAGAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695491
chr5:156695495 AGATAGAT
others(9): Show 
AGATAGATAGATAGATG
A
A
13 a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
others(10): Show 
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
13 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(10): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp2
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+47975_575+4799
others(20): Show 
c.575+47975_575+47990delGGATAGATAGATAGAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695495
chr5:156695511 GGATA
GGATA
G
G
9 a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0003g0022
others(6): Show 
a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0003g0022
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0054g0073
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
9 HG01109.hp1
HG01169.hp2
HG02630.hp2
others(6): Show 
HG01109.hp1
HG01169.hp2
HG02630.hp2
HG02897.hp2
HG02922.hp1
HG03486.hp1
NA18522.hp1
NA18990.hp1
NA19011.hp1
intron_variant MODIFIER c.575+48032_575+4803
others(8): Show 
c.575+48032_575+48035delGATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695511
chr5:156695511 GGATAGAT
others(1): Show 
GGATAGATA
G
G
12 a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0143
others(9): Show 
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0018g0039
a0001c0001t0034g0118
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0051g0099
a0001c0002t0059g0002
a0003c0005t0001g0148
12 HG00558.hp1
HG01256.hp2
HG02559.hp2
others(9): Show 
HG00558.hp1
HG01256.hp2
HG02559.hp2
HG02717.hp2
HG02735.hp1
HG03486.hp2
HG03579.hp1
NA18953.hp2
NA18959.hp1
NA19030.hp2
NA19057.hp1
NA19066.hp2
intron_variant MODIFIER c.575+48028_575+4803
others(12): Show 
c.575+48028_575+48035delGATAGATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695511
chr5:156695511 GGATAGAT
others(5): Show 
GGATAGATAGATA
G
G
26 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0116
others(23): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0116
a0001c0001t0001g0146
a0001c0001t0003g0013
a0001c0001t0003g0136
a0001c0001t0021g0046
a0001c0001t0046g0121
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0024g0100
a0001c0002t0058g0089
a0002c0003t0017g0014
a0004c0007t0020g0012
26 HG01081.hp1
HG01256.hp1
HG01258.hp1
others(23): Show 
HG01081.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02698.hp1
HG04115.hp2
NA18966.hp2
NA18985.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+48024_575+4803
others(16): Show 
c.575+48024_575+48035delGATAGATAGATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695511
chr5:156695511 GGATAGAT
others(9): Show 
GGATAGATAGATAGATA
G
G
39 a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
others(36): Show 
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0016g0120
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0049g0149
a0001c0002t0002g0080
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0113
a0001c0002t0008g0006
a0001c0002t0011g0051
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0056g0096
a0001c0002t0060g0074
a0002c0003t0003g0140
39 HG00639.hp1
HG01070.hp2
HG01071.hp1
others(36): Show 
HG00639.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01258.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02258.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
NA18522.hp2
NA18906.hp1
NA18964.hp1
NA19002.hp2
NA19043.hp2
intron_variant MODIFIER c.575+48020_575+4803
others(20): Show 
c.575+48020_575+48035delGATAGATAGATAGATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695511
chr5:156695511 GGATAGAT
others(13): Show 
GGATAGATAGATAGATAGATA
G
G
4 a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0002t0004g0106
others(1): Show 
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0002t0004g0106
a0001c0002t0044g0026
4 HG01070.hp1
HG01169.hp1
HG01891.hp2
others(1): Show 
HG01070.hp1
HG01169.hp1
HG01891.hp2
HG03471.hp2
intron_variant MODIFIER c.575+48016_575+4803
others(24): Show 
c.575+48016_575+48035delGATAGATAGATAGATAGATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695511
chr5:156695511 GGATAGAT
others(17): Show 
GGATAGATAGATAGATAGATAGATA
G
G
2 a0001c0001t0001g0052
a0001c0001t0047g0003
a0001c0001t0001g0052
a0001c0001t0047g0003
2 HG02257.hp2
NA20129.hp1
HG02257.hp2
NA20129.hp1
intron_variant MODIFIER c.575+48012_575+4803
others(28): Show 
c.575+48012_575+48035delGATAGATAGATAGATAGATAGATA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156695511
chr5:156695515 A
A
G
G
1 a0001c0001t0003g0125
a0001c0001t0003g0125
1 HG01081.hp2
HG01081.hp2
intron_variant MODIFIER c.575+47979A>G
c.575+47979A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156695515
chr5:156695523 A
A
G
G
13 a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
others(10): Show 
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
13 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(10): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp2
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+47987A>G
c.575+47987A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156695523
chr5:156695527 A
A
G
G
15 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0007g0138
others(12): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0032g0020
a0001c0001t0042g0065
a0001c0001t0048g0053
a0001c0002t0005g0082
a0001c0002t0022g0029
a0001c0002t0050g0072
a0001c0006t0018g0145
15 HG00639.hp2
HG02055.hp1
HG02056.hp1
others(12): Show 
HG00639.hp2
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03490.hp2
NA19030.hp1
NA19043.hp1
NA19066.hp1
NA20300.hp2
intron_variant MODIFIER c.575+47991A>G
c.575+47991A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156695527
chr5:156695531 A
A
G
G
20 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(17): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0045g0137
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
20 HG00558.hp2
HG01243.hp2
HG01891.hp1
others(17): Show 
HG00558.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19090.hp1
intron_variant MODIFIER c.575+47995A>G
c.575+47995A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156695531
chr5:156695535 A
A
G
G
5 a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0002t0010g0001
others(2): Show 
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
5 HG02698.hp2
NA18990.hp2
NA19002.hp1
others(2): Show 
HG02698.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA20129.hp2
intron_variant MODIFIER c.575+47999A>G
c.575+47999A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156695535
chr5:156695544 G
G
A
A
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+48008G>A
c.575+48008G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156695544
chr5:156695615 G
G
A
A
2 a0001c0001t0030g0135
a0003c0005t0001g0148
a0001c0001t0030g0135
a0003c0005t0001g0148
2 HG02735.hp1
HG03239.hp2
HG02735.hp1
HG03239.hp2
intron_variant MODIFIER c.575+48079G>A
c.575+48079G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156695615
chr5:156695661 C
C
T
T
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
22 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(19): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+48125C>T
c.575+48125C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156695661
chr5:156695914 T
T
C
C
3 a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0040g0131
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0040g0131
3 HG01081.hp2
HG01109.hp1
HG03239.hp2
HG01081.hp2
HG01109.hp1
HG03239.hp2
intron_variant MODIFIER c.575+48378T>C
c.575+48378T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156695914
chr5:156696010 TCTCAAGG
others(4): Show 
TCTCAAGGCCTA
T
T
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.575+48476_575+4848
others(15): Show 
c.575+48476_575+48486delTCAAGGCCTAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156696010
chr5:156696318 C
C
G
G
1 a0001c0002t0053g0085
a0001c0002t0053g0085
1 HG03453.hp1
HG03453.hp1
intron_variant MODIFIER c.575+48782C>G
c.575+48782C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156696318
chr5:156696640 G
G
A
A
83 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(80): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+49104G>A
c.575+49104G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156696640
chr5:156696660 A
A
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+49124A>C
c.575+49124A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156696660
chr5:156696661 G
G
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+49125G>C
c.575+49125G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156696661
chr5:156696915 A
A
AAC
AAC
4 a0001c0001t0027g0011
a0001c0002t0010g0001
a0001c0002t0010g0094
others(1): Show 
a0001c0001t0027g0011
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
4 NA18990.hp2
NA19002.hp1
NA19010.hp2
others(1): Show 
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19030.hp1
intron_variant MODIFIER c.575+49426_575+4942
others(6): Show 
c.575+49426_575+49427dupAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156696915
chr5:156696915 AAC
AAC
A
A
3 a0001c0001t0029g0024
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0001t0029g0024
a0001c0001t0040g0131
a0001c0002t0005g0097
3 HG01109.hp1
HG03098.hp2
NA20805.hp2
HG01109.hp1
HG03098.hp2
NA20805.hp2
intron_variant MODIFIER c.575+49426_575+4942
others(6): Show 
c.575+49426_575+49427delAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156696915
chr5:156696915 AACAC
AACAC
A
A
3 a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0043g0139
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0043g0139
3 HG02622.hp1
HG02630.hp1
HG02970.hp1
HG02622.hp1
HG02630.hp1
HG02970.hp1
intron_variant MODIFIER c.575+49424_575+4942
others(8): Show 
c.575+49424_575+49427delACAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156696915
chr5:156696915 AACACAC
AACACAC
A
A
8 a0001c0001t0001g0015
a0001c0001t0006g0038
a0001c0001t0009g0142
others(5): Show 
a0001c0001t0001g0015
a0001c0001t0006g0038
a0001c0001t0009g0142
a0001c0001t0042g0065
a0001c0001t0049g0149
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
8 HG02055.hp1
HG02129.hp2
HG02257.hp1
others(5): Show 
HG02055.hp1
HG02129.hp2
HG02257.hp1
HG02809.hp1
HG02922.hp2
HG03130.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+49422_575+4942
others(10): Show 
c.575+49422_575+49427delACACAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156696915
chr5:156696915 AACACACA
others(1): Show 
AACACACAC
A
A
5 a0001c0001t0001g0050
a0001c0001t0007g0126
a0001c0001t0009g0036
others(2): Show 
a0001c0001t0001g0050
a0001c0001t0007g0126
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0002t0051g0099
5 HG02155.hp2
HG02723.hp2
HG02895.hp1
others(2): Show 
HG02155.hp2
HG02723.hp2
HG02895.hp1
NA18522.hp2
NA19066.hp2
intron_variant MODIFIER c.575+49420_575+4942
others(12): Show 
c.575+49420_575+49427delACACACAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156696915
chr5:156696915 AACACACA
others(3): Show 
AACACACACAC
A
A
28 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0116
others(25): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0116
a0001c0001t0001g0150
a0001c0001t0006g0041
a0001c0001t0007g0124
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0038g0044
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0102
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0024g0100
a0001c0002t0059g0002
a0004c0007t0020g0012
28 HG01256.hp1
HG01258.hp1
HG01261.hp1
others(25): Show 
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02155.hp1
HG02257.hp2
HG02723.hp1
HG02809.hp2
HG03139.hp1
HG03139.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp2
NA18953.hp1
NA18959.hp1
NA18964.hp2
NA18966.hp1
NA19090.hp2
intron_variant MODIFIER c.575+49418_575+4942
others(14): Show 
c.575+49418_575+49427delACACACACAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156696915
chr5:156696915 AACACACA
others(5): Show 
AACACACACACAC
A
A
55 a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
others(52): Show 
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0147
a0001c0001t0003g0018
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0007g0123
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0027
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0048g0053
a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0003c0005t0001g0148
55 HG00558.hp1
HG00558.hp2
HG00639.hp2
others(52): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01258.hp2
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02615.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02965.hp1
HG02965.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19090.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+49416_575+4942
others(16): Show 
c.575+49416_575+49427delACACACACACAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156696915
chr5:156696915 AACACACA
others(7): Show 
AACACACACACACAC
A
A
24 a0001c0001t0001g0008
a0001c0001t0001g0054
a0001c0001t0001g0058
others(21): Show 
a0001c0001t0001g0008
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0033g0141
a0001c0001t0041g0028
a0001c0002t0002g0069
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0004t0001g0009
a0001c0004t0017g0007
24 HG01243.hp1
HG01981.hp1
HG02145.hp1
others(21): Show 
HG01243.hp1
HG01981.hp1
HG02145.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02717.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03579.hp1
NA18522.hp1
NA19003.hp1
NA19009.hp1
NA19030.hp2
NA19057.hp2
NA19240.hp1
NA19240.hp2
intron_variant MODIFIER c.575+49414_575+4942
others(18): Show 
c.575+49414_575+49427delACACACACACACAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156696915
chr5:156696915 AACACACA
others(9): Show 
AACACACACACACACAC
A
A
7 a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
others(4): Show 
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0025g0035
a0001c0001t0047g0003
a0001c0002t0044g0026
a0001c0002t0056g0096
7 HG02698.hp1
HG02897.hp2
HG03471.hp2
others(4): Show 
HG02698.hp1
HG02897.hp2
HG03471.hp2
HG03704.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
intron_variant MODIFIER c.575+49412_575+4942
others(20): Show 
c.575+49412_575+49427delACACACACACACACAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156696915
chr5:156696915 AACACACA
others(17): Show 
AACACACACACACACACACACACAC
A
A
3 a0001c0002t0004g0088
a0002c0003t0003g0140
a0002c0003t0017g0014
a0001c0002t0004g0088
a0002c0003t0003g0140
a0002c0003t0017g0014
3 HG00639.hp1
HG02559.hp1
HG04115.hp2
HG00639.hp1
HG02559.hp1
HG04115.hp2
intron_variant MODIFIER c.575+49404_575+4942
others(28): Show 
c.575+49404_575+49427delACACACACACACACACACACACAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156696915
chr5:156696984 T
T
C
C
31 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(28): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
31 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(28): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02698.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.575+49448T>C
c.575+49448T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156696984
chr5:156697123 G
G
A
A
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.575+49587G>A
c.575+49587G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156697123
chr5:156697313 G
G
A
A
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+49777G>A
c.575+49777G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156697313
chr5:156697388 T
T
C
C
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.575+49852T>C
c.575+49852T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156697388
chr5:156697544 G
G
T
T
3 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0042g0065
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0042g0065
3 HG02809.hp1
HG02922.hp2
HG02970.hp1
HG02809.hp1
HG02922.hp2
HG02970.hp1
intron_variant MODIFIER c.575+50008G>T
c.575+50008G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156697544
chr5:156697670 G
G
T
T
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+50134G>T
c.575+50134G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156697670
chr5:156697708 A
A
G
G
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+50172A>G
c.575+50172A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156697708
chr5:156697750 C
C
CGGAT
CGGAT
20 a0001c0001t0001g0015
a0001c0001t0001g0058
a0001c0001t0001g0143
others(17): Show 
a0001c0001t0001g0015
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0125
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0022g0064
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0002t0002g0069
a0001c0002t0002g0098
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0057g0110
a0001c0006t0018g0145
20 HG01081.hp2
HG01169.hp2
HG01256.hp2
others(17): Show 
HG01081.hp2
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02055.hp1
HG02129.hp2
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG02723.hp2
HG03041.hp2
HG03239.hp2
HG03579.hp1
NA18906.hp2
NA18964.hp1
NA19043.hp1
NA19066.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.575+50256_575+5025
others(8): Show 
c.575+50256_575+50259dupGATG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156697750
chr5:156697750 CGGAT
CGGAT
C
C
24 a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0052
others(21): Show 
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0036g0043
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0004g0104
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0058g0089
a0001c0002t0059g0002
a0003c0005t0001g0148
a0004c0007t0020g0012
24 HG01081.hp1
HG01109.hp2
HG01256.hp1
others(21): Show 
HG01081.hp1
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02723.hp1
HG02735.hp1
HG03139.hp1
HG03139.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
NA18906.hp1
NA18959.hp1
NA20129.hp1
intron_variant MODIFIER c.575+50256_575+5025
others(8): Show 
c.575+50256_575+50259delGATG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156697750
chr5:156697750 CGGATGGA
others(1): Show 
CGGATGGAT
C
C
21 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(18): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
21 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(18): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.575+50252_575+5025
others(12): Show 
c.575+50252_575+50259delGATGGATG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156697750
chr5:156697750 CGGATGGA
others(5): Show 
CGGATGGATGGAT
C
C
1 a0001c0002t0015g0078
a0001c0002t0015g0078
1 HG02155.hp1
HG02155.hp1
intron_variant MODIFIER c.575+50248_575+5025
others(16): Show 
c.575+50248_575+50259delGATGGATGGATG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156697750
chr5:156697754 T
T
C
C
5 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
others(2): Show 
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
5 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(2): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.575+50218T>C
c.575+50218T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156697754
chr5:156697964 G
G
A
A
4 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
others(1): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0042g0065
4 HG02809.hp1
HG02895.hp1
HG02922.hp2
others(1): Show 
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
intron_variant MODIFIER c.575+50428G>A
c.575+50428G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156697964
chr5:156697997 T
T
G
G
6 a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(3): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19030.hp1
intron_variant MODIFIER c.575+50461T>G
c.575+50461T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156697997
chr5:156698119 A
A
T
T
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+50583A>T
c.575+50583A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156698119
chr5:156698243 C
C
T
T
3 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0042g0065
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0042g0065
3 HG02809.hp1
HG02922.hp2
HG02970.hp1
HG02809.hp1
HG02922.hp2
HG02970.hp1
intron_variant MODIFIER c.575+50707C>T
c.575+50707C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156698243
chr5:156698457 G
G
A
A
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.575+50921G>A
c.575+50921G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156698457
chr5:156698488 C
C
T
T
109 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(106): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
109 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(106): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+50952C>T
c.575+50952C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156698488
chr5:156698510 G
G
A
A
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.575+50974G>A
c.575+50974G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156698510
chr5:156698514 C
C
T
T
83 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(80): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+50978C>T
c.575+50978C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156698514
chr5:156698728 C
C
A
A
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+51192C>A
c.575+51192C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156698728
chr5:156698840 T
T
TAC
TAC
64 a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
others(61): Show 
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0021g0046
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0008g0115
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0061g0103
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0004c0007t0020g0012
64 HG00558.hp1
HG00639.hp1
HG01070.hp2
others(61): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.575+51344_575+5134
others(6): Show 
c.575+51344_575+51345dupCA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156698840
chr5:156698840 T
T
TACAC
TACAC
13 a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0014g0055
others(10): Show 
a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0002t0002g0070
a0001c0002t0005g0082
a0001c0002t0011g0090
a0001c0004t0001g0009
a0001c0004t0017g0007
13 HG01070.hp1
HG01071.hp1
HG01169.hp1
others(10): Show 
HG01070.hp1
HG01071.hp1
HG01169.hp1
HG01978.hp2
HG02056.hp1
HG02630.hp2
HG02922.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp2
NA18522.hp1
NA18985.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+51342_575+5134
others(8): Show 
c.575+51342_575+51345dupCACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156698840
chr5:156698840 T
T
TACACAC
TACACAC
4 a0001c0001t0003g0018
a0001c0001t0006g0038
a0001c0001t0006g0066
others(1): Show 
a0001c0001t0003g0018
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0042g0065
4 HG02809.hp1
HG02922.hp2
HG02970.hp1
others(1): Show 
HG02809.hp1
HG02922.hp2
HG02970.hp1
HG03490.hp1
intron_variant MODIFIER c.575+51340_575+5134
others(10): Show 
c.575+51340_575+51345dupCACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156698840
chr5:156698840 T
T
TACACACA
others(1): Show 
TACACACAC
3 a0001c0001t0001g0050
a0001c0001t0009g0036
a0001c0001t0018g0039
a0001c0001t0001g0050
a0001c0001t0009g0036
a0001c0001t0018g0039
3 HG02895.hp1
NA18522.hp2
NA19030.hp2
HG02895.hp1
NA18522.hp2
NA19030.hp2
intron_variant MODIFIER c.575+51338_575+5134
others(12): Show 
c.575+51338_575+51345dupCACACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156698840
chr5:156698840 TAC
TAC
T
T
5 a0001c0001t0001g0023
a0001c0001t0003g0119
a0001c0001t0013g0057
others(2): Show 
a0001c0001t0001g0023
a0001c0001t0003g0119
a0001c0001t0013g0057
a0001c0002t0015g0086
a0001c0002t0060g0074
5 HG02735.hp2
HG02809.hp2
HG02965.hp1
others(2): Show 
HG02735.hp2
HG02809.hp2
HG02965.hp1
HG03225.hp1
HG03704.hp2
intron_variant MODIFIER c.575+51344_575+5134
others(6): Show 
c.575+51344_575+51345delCA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156698840
chr5:156698840 TACAC
TACAC
T
T
2 a0001c0001t0020g0017
a0001c0001t0043g0139
a0001c0001t0020g0017
a0001c0001t0043g0139
2 HG02622.hp1
HG02630.hp1
HG02622.hp1
HG02630.hp1
intron_variant MODIFIER c.575+51342_575+5134
others(8): Show 
c.575+51342_575+51345delCACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156698840
chr5:156698840 TACACAC
TACACAC
T
T
14 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(11): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0016g0144
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
14 HG01243.hp1
HG01243.hp2
HG01981.hp1
others(11): Show 
HG01243.hp1
HG01243.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
NA19003.hp1
NA19240.hp1
NA20300.hp2
intron_variant MODIFIER c.575+51340_575+5134
others(10): Show 
c.575+51340_575+51345delCACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156698840
chr5:156698840 TACACACA
others(1): Show 
TACACACAC
T
T
21 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(18): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0055g0091
21 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(18): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02965.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.575+51338_575+5134
others(12): Show 
c.575+51338_575+51345delCACACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156698840
chr5:156698840 TACACACA
others(9): Show 
TACACACACACACACAC
T
T
6 a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(3): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19030.hp1
intron_variant MODIFIER c.575+51330_575+5134
others(20): Show 
c.575+51330_575+51345delCACACACACACACACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156698840
chr5:156699116 T
T
C
C
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+51580T>C
c.575+51580T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156699116
chr5:156699133 G
G
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+51597G>C
c.575+51597G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156699133
chr5:156699272 GAGT
GAGT
G
G
28 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(25): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
28 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(25): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02698.hp2
HG02965.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+51739_575+5174
others(7): Show 
c.575+51739_575+51741delTAG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156699272
chr5:156699304 G
G
A
A
5 a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
others(2): Show 
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0037g0042
a0001c0002t0002g0069
5 HG02145.hp1
HG02559.hp2
HG03579.hp1
others(2): Show 
HG02145.hp1
HG02559.hp2
HG03579.hp1
NA19043.hp2
NA19240.hp2
intron_variant MODIFIER c.575+51768G>A
c.575+51768G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156699304
chr5:156699413 G
G
T
T
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+51877G>T
c.575+51877G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156699413
chr5:156699476 AT
AT
A
A
7 a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0014g0132
others(4): Show 
a0001c0001t0003g0056
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0022g0064
a0001c0002t0004g0113
a0001c0002t0022g0029
7 HG01070.hp1
HG01070.hp2
HG01071.hp1
others(4): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01169.hp1
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+51951delT
c.575+51951delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156699476
chr5:156699565 C
C
T
T
1 a0001c0001t0009g0036
a0001c0001t0009g0036
1 HG02895.hp1
HG02895.hp1
intron_variant MODIFIER c.575+52029C>T
c.575+52029C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156699565
chr5:156699752 T
T
A
A
1 a0001c0001t0016g0144
a0001c0001t0016g0144
1 HG01243.hp1
HG01243.hp1
intron_variant MODIFIER c.575+52216T>A
c.575+52216T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156699752
chr5:156699753 GA
GA
G
G
29 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(26): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
29 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(26): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02698.hp2
HG02965.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.575+52220delA
c.575+52220delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156699753
chr5:156699869 A
A
G
G
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+52333A>G
c.575+52333A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156699869
chr5:156699931 G
G
T
T
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+52395G>T
c.575+52395G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156699931
chr5:156699958 G
G
C
C
129 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(126): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
129 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(126): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+52422G>C
c.575+52422G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156699958
chr5:156699993 CAAAAG
CAAAAG
C
C
14 a0001c0001t0001g0023
a0001c0001t0001g0117
a0001c0001t0003g0056
others(11): Show 
a0001c0001t0001g0023
a0001c0001t0001g0117
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0002t0002g0095
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0028g0034
a0001c0002t0060g0074
14 HG01070.hp2
HG01071.hp2
HG01258.hp2
others(11): Show 
HG01070.hp2
HG01071.hp2
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02965.hp1
HG03239.hp1
HG03704.hp2
HG04115.hp1
intron_variant MODIFIER c.575+52460_575+5246
others(9): Show 
c.575+52460_575+52464delAAGAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156699993
chr5:156700110 A
A
C
C
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+52574A>C
c.575+52574A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156700110
chr5:156700267 TCTCTGTT
others(5): Show 
TCTCTGTTGTACC
T
T
1 a0001c0002t0015g0081
a0001c0002t0015g0081
1 NA19003.hp2
NA19003.hp2
intron_variant MODIFIER c.575+52735_575+5274
others(16): Show 
c.575+52735_575+52746delTGTTGTACCCTC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156700267
chr5:156700542 C
C
A
A
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+53006C>A
c.575+53006C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156700542
chr5:156700543 C
C
A
A
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+53007C>A
c.575+53007C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156700543
chr5:156700609 A
A
G
G
146 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(143): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
146 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(143): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+53073A>G
c.575+53073A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156700609
chr5:156700625 T
T
G
G
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+53089T>G
c.575+53089T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156700625
chr5:156700942 C
C
CA
CA
88 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(85): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
88 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(85): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+53423dupA
c.575+53423dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156700942
chr5:156700942 C
C
CAA
CAA
34 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0005g0129
others(31): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0142
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0031g0021
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0002g0093
a0001c0002t0004g0092
a0001c0002t0004g0114
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0006t0018g0145
34 HG00558.hp2
HG00639.hp2
HG01109.hp2
others(31): Show 
HG00558.hp2
HG00639.hp2
HG01109.hp2
HG01243.hp2
HG01261.hp1
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02622.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03453.hp1
HG03579.hp2
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18964.hp2
NA19003.hp1
NA19009.hp1
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.575+53422_575+5342
others(6): Show 
c.575+53422_575+53423dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156700942
chr5:156700942 C
C
CAAA
CAAA
6 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0029g0024
others(3): Show 
a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0049g0149
a0001c0002t0005g0082
6 HG02056.hp1
HG02723.hp2
HG03098.hp2
others(3): Show 
HG02056.hp1
HG02723.hp2
HG03098.hp2
HG03130.hp2
HG03490.hp2
NA18522.hp2
intron_variant MODIFIER c.575+53421_575+5342
others(7): Show 
c.575+53421_575+53423dupAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156700942
chr5:156700942 CA
CA
C
C
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+53423delA
c.575+53423delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156700942
chr5:156701017 T
T
C
C
1 a0001c0001t0016g0144
a0001c0001t0016g0144
1 HG01243.hp1
HG01243.hp1
intron_variant MODIFIER c.575+53481T>C
c.575+53481T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156701017
chr5:156701101 C
C
T
T
2 a0001c0001t0006g0037
a0001c0001t0036g0043
a0001c0001t0006g0037
a0001c0001t0036g0043
2 HG02258.hp2
NA18906.hp1
HG02258.hp2
NA18906.hp1
intron_variant MODIFIER c.575+53565C>T
c.575+53565C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156701101
chr5:156701103 G
G
A
A
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.575+53567G>A
c.575+53567G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156701103
chr5:156701111 G
G
T
T
98 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(95): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
98 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(95): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+53575G>T
c.575+53575G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156701111
chr5:156701564 C
C
T
T
7 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0032g0020
others(4): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0032g0020
a0001c0002t0005g0082
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
7 HG02055.hp1
HG02056.hp1
HG02257.hp1
others(4): Show 
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02723.hp2
HG03490.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.575+54028C>T
c.575+54028C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156701564
chr5:156701733 G
G
A
A
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+54197G>A
c.575+54197G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156701733
chr5:156702050 T
T
C
C
99 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(96): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
99 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(96): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+54514T>C
c.575+54514T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156702050
chr5:156702154 T
T
C
C
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+54618T>C
c.575+54618T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156702154
chr5:156702314 C
C
T
T
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.575+54778C>T
c.575+54778C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156702314
chr5:156702388 T
T
C
C
1 a0002c0003t0017g0014
a0002c0003t0017g0014
1 HG04115.hp2
HG04115.hp2
intron_variant MODIFIER c.575+54852T>C
c.575+54852T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156702388
chr5:156702477 C
C
T
T
138 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(135): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
138 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(135): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.575+54941C>T
c.575+54941C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156702477
chr5:156702510 C
C
T
T
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.575+54974C>T
c.575+54974C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156702510
chr5:156702821 CAAT
CAAT
C
C
28 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(25): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
28 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(25): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02698.hp2
HG02965.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.576-54759_576-5475
others(7): Show 
c.576-54759_576-54757delAAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156702821
chr5:156703073 A
A
T
T
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.576-54508A>T
c.576-54508A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156703073
chr5:156703381 TC
TC
T
T
21 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(18): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
21 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(18): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.576-54199delC
c.576-54199delC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156703381
chr5:156703382 C
C
A
A
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.576-54199C>A
c.576-54199C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156703382
chr5:156703382 CT
CT
C
C
5 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
others(2): Show 
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
5 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(2): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.576-54186delT
c.576-54186delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156703382
chr5:156703383 T
T
A
A
21 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(18): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
21 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(18): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.576-54198T>A
c.576-54198T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156703383
chr5:156703386 T
T
A
A
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.576-54195T>A
c.576-54195T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156703386
chr5:156703387 T
T
A
A
21 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(18): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
21 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(18): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.576-54194T>A
c.576-54194T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156703387
chr5:156703871 G
G
A
A
99 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(96): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
99 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(96): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-53710G>A
c.576-53710G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156703871
chr5:156704240 A
A
G
G
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-53341A>G
c.576-53341A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156704240
chr5:156704665 C
C
T
T
6 a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0002t0010g0001
others(3): Show 
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
6 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(3): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19030.hp1
intron_variant MODIFIER c.576-52916C>T
c.576-52916C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156704665
chr5:156704817 T
T
A
A
21 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(18): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
21 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(18): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.576-52764T>A
c.576-52764T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156704817
chr5:156704977 A
A
T
T
14 a0001c0001t0001g0050
a0001c0001t0006g0038
a0001c0001t0006g0066
others(11): Show 
a0001c0001t0001g0050
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0042g0065
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
14 HG02055.hp1
HG02056.hp1
HG02257.hp1
others(11): Show 
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp2
HG03490.hp2
NA18522.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.576-52604A>T
c.576-52604A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156704977
chr5:156705137 G
G
A
A
4 a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0039g0004
others(1): Show 
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0039g0004
a0001c0002t0004g0113
4 HG01070.hp2
HG01071.hp2
HG02735.hp2
others(1): Show 
HG01070.hp2
HG01071.hp2
HG02735.hp2
HG04115.hp1
intron_variant MODIFIER c.576-52444G>A
c.576-52444G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156705137
chr5:156705194 C
C
T
T
83 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(80): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
83 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(80): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-52387C>T
c.576-52387C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156705194
chr5:156705267 A
A
G
G
127 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(124): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
127 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(124): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-52314A>G
c.576-52314A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156705267
chr5:156705330 T
T
C
C
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.576-52251T>C
c.576-52251T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156705330
chr5:156705467 A
A
G
G
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.576-52114A>G
c.576-52114A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156705467
chr5:156705572 A
A
G
G
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-52009A>G
c.576-52009A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156705572
chr5:156706068 C
C
G
G
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-51513C>G
c.576-51513C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156706068
chr5:156706091 T
T
C
C
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.576-51490T>C
c.576-51490T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156706091
chr5:156706122 G
G
A
A
28 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(25): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
28 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(25): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02698.hp2
HG02965.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.576-51459G>A
c.576-51459G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156706122
chr5:156706124 G
G
T
T
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.576-51457G>T
c.576-51457G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156706124
chr5:156706247 T
T
C
C
10 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0006g0037
others(7): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0036g0043
a0001c0002t0002g0061
a0001c0002t0052g0111
a0003c0005t0001g0148
10 HG02257.hp2
HG02258.hp2
HG02723.hp1
others(7): Show 
HG02257.hp2
HG02258.hp2
HG02723.hp1
HG02735.hp1
HG03139.hp1
HG03139.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
NA18906.hp1
intron_variant MODIFIER c.576-51334T>C
c.576-51334T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156706247
chr5:156706670 C
C
T
T
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.576-50911C>T
c.576-50911C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156706670
chr5:156706888 T
T
C
C
138 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(135): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
138 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(135): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-50693T>C
c.576-50693T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156706888
chr5:156706907 T
T
G
G
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.576-50674T>G
c.576-50674T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156706907
chr5:156707030 G
G
A
A
138 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(135): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
138 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(135): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-50551G>A
c.576-50551G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156707030
chr5:156707068 A
A
G
G
1 a0001c0002t0057g0110
a0001c0002t0057g0110
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.576-50513A>G
c.576-50513A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156707068
chr5:156707208 G
G
A
A
5 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
others(2): Show 
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
5 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(2): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.576-50373G>A
c.576-50373G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156707208
chr5:156707324 A
A
G
G
10 a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
others(7): Show 
a0001c0001t0001g0050
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0029g0024
a0001c0001t0032g0020
a0001c0001t0049g0149
a0001c0002t0005g0082
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
10 HG02055.hp1
HG02056.hp1
HG02257.hp1
others(7): Show 
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02723.hp2
HG03098.hp2
HG03130.hp2
HG03490.hp2
NA18522.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.576-50257A>G
c.576-50257A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156707324
chr5:156707795 G
G
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-49786G>A
c.576-49786G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156707795
chr5:156708279 TAAA
TAAA
T
T
6 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0027g0011
others(3): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0027g0011
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
6 HG02055.hp1
HG02257.hp1
HG02723.hp2
others(3): Show 
HG02055.hp1
HG02257.hp1
HG02723.hp2
NA18906.hp2
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.576-49288_576-4928
others(7): Show 
c.576-49288_576-49286delAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156708279
chr5:156708279 TAAAA
TAAAA
T
T
120 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(117): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
120 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(117): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-49289_576-4928
others(8): Show 
c.576-49289_576-49286delAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156708279
chr5:156708279 TAAAAA
TAAAAA
T
T
12 a0001c0001t0001g0023
a0001c0001t0003g0056
a0001c0001t0003g0119
others(9): Show 
a0001c0001t0001g0023
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0005g0047
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0002t0002g0095
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0056g0096
12 HG01070.hp2
HG01071.hp2
HG01258.hp2
others(9): Show 
HG01070.hp2
HG01071.hp2
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02735.hp2
HG03239.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
intron_variant MODIFIER c.576-49290_576-4928
others(9): Show 
c.576-49290_576-49286delAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156708279
chr5:156708303 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.576-49278A>G
c.576-49278A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156708303
chr5:156708382 A
A
T
T
11 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
others(8): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0032g0020
a0001c0001t0042g0065
a0001c0002t0005g0082
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
11 HG02055.hp1
HG02056.hp1
HG02257.hp1
others(8): Show 
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03490.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.576-49199A>T
c.576-49199A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156708382
chr5:156708426 C
C
T
T
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
22 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(19): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.576-49155C>T
c.576-49155C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156708426
chr5:156708598 G
G
A
A
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.576-48983G>A
c.576-48983G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156708598
chr5:156708664 A
A
ATTGT
ATTGT
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-48916_576-4891
others(8): Show 
c.576-48916_576-48913dupTTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156708664
chr5:156708684 C
C
A
A
110 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(107): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
110 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(107): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-48897C>A
c.576-48897C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156708684
chr5:156708746 G
G
T
T
7 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0032g0020
others(4): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0032g0020
a0001c0002t0005g0082
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
7 HG02055.hp1
HG02056.hp1
HG02257.hp1
others(4): Show 
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02723.hp2
HG03490.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.576-48835G>T
c.576-48835G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156708746
chr5:156708838 T
T
A
A
1 a0001c0001t0001g0150
a0001c0001t0001g0150
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.576-48743T>A
c.576-48743T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156708838
chr5:156708844 C
C
A
A
71 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(68): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
71 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(68): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-48737C>A
c.576-48737C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156708844
chr5:156708917 G
G
A
A
10 a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
others(7): Show 
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0046g0121
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
10 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(7): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02145.hp2
NA18959.hp1
intron_variant MODIFIER c.576-48664G>A
c.576-48664G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156708917
chr5:156709014 AG
AG
A
A
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(7): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-48566delG
c.576-48566delG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156709014
chr5:156709071 A
A
G
G
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-48510A>G
c.576-48510A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156709071
chr5:156709632 C
C
T
T
1 a0001c0001t0003g0125
a0001c0001t0003g0125
1 HG01081.hp2
HG01081.hp2
intron_variant MODIFIER c.576-47949C>T
c.576-47949C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156709632
chr5:156709833 TC
TC
T
T
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-47741delC
c.576-47741delC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156709833
chr5:156710216 G
G
A
A
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.576-47365G>A
c.576-47365G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156710216
chr5:156710480 G
G
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-47101G>A
c.576-47101G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156710480
chr5:156710738 A
A
C
C
1 a0001c0001t0001g0008
a0001c0001t0001g0008
1 NA18522.hp1
NA18522.hp1
intron_variant MODIFIER c.576-46843A>C
c.576-46843A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156710738
chr5:156711047 G
G
A
A
1 a0001c0002t0015g0086
a0001c0002t0015g0086
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.576-46534G>A
c.576-46534G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156711047
chr5:156711106 G
G
C
C
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-46475G>C
c.576-46475G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156711106
chr5:156711151 T
T
C
C
9 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0006g0037
others(6): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0036g0043
a0001c0002t0002g0061
a0001c0002t0052g0111
9 HG02257.hp2
HG02258.hp2
HG02723.hp1
others(6): Show 
HG02257.hp2
HG02258.hp2
HG02723.hp1
HG03139.hp1
HG03139.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
NA18906.hp1
intron_variant MODIFIER c.576-46430T>C
c.576-46430T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156711151
chr5:156711269 T
T
G
G
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-46312T>G
c.576-46312T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156711269
chr5:156711345 T
T
C
C
7 a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0046g0121
others(4): Show 
a0001c0001t0021g0046
a0001c0001t0031g0021
a0001c0001t0046g0121
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0059g0002
a0004c0007t0020g0012
7 HG01256.hp1
HG01258.hp1
HG01261.hp2
others(4): Show 
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
NA18959.hp1
intron_variant MODIFIER c.576-46236T>C
c.576-46236T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156711345
chr5:156711377 C
C
A
A
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.576-46204C>A
c.576-46204C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156711377
chr5:156711418 A
A
G
G
1 a0001c0001t0001g0045
a0001c0001t0001g0045
1 NA19002.hp2
NA19002.hp2
intron_variant MODIFIER c.576-46163A>G
c.576-46163A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156711418
chr5:156711423 TAAG
TAAG
T
T
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-46154_576-4615
others(7): Show 
c.576-46154_576-46152delAAG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156711423
chr5:156711494 C
C
T
T
17 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(14): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
17 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(14): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19240.hp1
intron_variant MODIFIER c.576-46087C>T
c.576-46087C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156711494
chr5:156711575 C
C
T
T
1 a0001c0002t0023g0071
a0001c0002t0023g0071
1 HG01981.hp2
HG01981.hp2
intron_variant MODIFIER c.576-46006C>T
c.576-46006C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156711575
chr5:156712265 A
A
G
G
1 a0001c0001t0026g0016
a0001c0001t0026g0016
1 HG02698.hp2
HG02698.hp2
intron_variant MODIFIER c.576-45316A>G
c.576-45316A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156712265
chr5:156712424 T
T
C
C
1 a0001c0001t0038g0044
a0001c0001t0038g0044
1 HG02083.hp1
HG02083.hp1
intron_variant MODIFIER c.576-45157T>C
c.576-45157T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156712424
chr5:156712558 G
G
A
A
140 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(137): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
140 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(137): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-45023G>A
c.576-45023G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156712558
chr5:156712633 T
T
G
G
101 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(98): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0042g0065
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
101 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(98): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-44948T>G
c.576-44948T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156712633
chr5:156712742 C
C
T
T
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.576-44839C>T
c.576-44839C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156712742
chr5:156712994 G
G
A
A
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.576-44587G>A
c.576-44587G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156712994
chr5:156713071 C
C
T
T
21 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(18): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
21 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(18): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
intron_variant MODIFIER c.576-44510C>T
c.576-44510C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156713071
chr5:156713082 A
A
G
G
9 a0001c0001t0001g0045
a0001c0001t0014g0055
a0001c0001t0014g0132
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0109
a0001c0002t0011g0051
a0001c0002t0023g0071
9 HG01070.hp1
HG01071.hp1
HG01169.hp1
others(6): Show 
HG01070.hp1
HG01071.hp1
HG01169.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
NA18964.hp1
NA19002.hp2
intron_variant MODIFIER c.576-44499A>G
c.576-44499A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156713082
chr5:156713162 C
C
T
T
1 a0001c0002t0002g0098
a0001c0002t0002g0098
1 NA18964.hp1
NA18964.hp1
intron_variant MODIFIER c.576-44419C>T
c.576-44419C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156713162
chr5:156713410 C
C
T
T
111 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(108): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
111 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(108): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-44171C>T
c.576-44171C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156713410
chr5:156713413 G
G
C
C
11 a0001c0001t0006g0041
a0001c0001t0021g0027
a0001c0001t0025g0035
others(8): Show 
a0001c0001t0006g0041
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0045g0137
a0001c0002t0010g0001
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0023g0112
a0001c0002t0053g0085
11 HG01243.hp2
HG01891.hp1
HG02258.hp1
others(8): Show 
HG01243.hp2
HG01891.hp1
HG02258.hp1
HG02698.hp2
HG02965.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18990.hp2
NA19002.hp1
NA20129.hp2
intron_variant MODIFIER c.576-44168G>C
c.576-44168G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156713413
chr5:156713413 G
G
T
T
4 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
others(1): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0042g0065
4 HG02809.hp1
HG02895.hp1
HG02922.hp2
others(1): Show 
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
intron_variant MODIFIER c.576-44168G>T
c.576-44168G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156713413
chr5:156713418 G
G
T
T
111 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(108): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0049
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
111 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(108): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01516.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-44163G>T
c.576-44163G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156713418
chr5:156713419 C
C
G
G
139 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(136): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
139 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(136): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-44162C>G
c.576-44162C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156713419
chr5:156713959 C
C
T
T
27 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(24): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
27 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(24): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02698.hp2
HG02965.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.576-43622C>T
c.576-43622C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156713959
chr5:156713994 C
C
T
T
70 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
others(67): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0136
a0001c0001t0005g0047
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0009g0049
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0028g0034
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
70 HG00558.hp1
HG00639.hp1
HG01070.hp1
others(67): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01258.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-43587C>T
c.576-43587C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156713994
chr5:156714205 A
A
C
C
2 a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0083
a0001c0002t0011g0084
2 HG01243.hp2
HG02258.hp1
HG01243.hp2
HG02258.hp1
intron_variant MODIFIER c.576-43376A>C
c.576-43376A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156714205
chr5:156714326 T
T
C
C
9 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.576-43255T>C
c.576-43255T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156714326
chr5:156714387 C
C
A
A
9 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0051g0099
9 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(6): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA19066.hp2
NA20805.hp2
intron_variant MODIFIER c.576-43194C>A
c.576-43194C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156714387
chr5:156714554 C
C
CA
CA
22 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(19): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
22 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(19): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.576-43022dupA
c.576-43022dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156714554
chr5:156714594 A
A
G
G
16 a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
others(13): Show 
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0021g0046
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
16 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(13): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02145.hp2
HG02615.hp2
HG03130.hp2
HG03471.hp2
NA18522.hp2
NA18959.hp1
NA19030.hp1
NA20129.hp1
intron_variant MODIFIER c.576-42987A>G
c.576-42987A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156714594
chr5:156714703 C
C
T
T
8 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(5): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
8 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(5): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA20805.hp2
intron_variant MODIFIER c.576-42878C>T
c.576-42878C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156714703
chr5:156714798 C
C
T
T
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.576-42783C>T
c.576-42783C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156714798
chr5:156714906 T
T
C
C
28 a0001c0001t0001g0019
a0001c0001t0001g0058
a0001c0001t0001g0133
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0058
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0018
a0001c0001t0037g0042
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0008g0076
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0061g0103
a0002c0003t0003g0140
a0002c0003t0017g0014
28 HG00558.hp1
HG00639.hp1
HG01081.hp1
others(25): Show 
HG00558.hp1
HG00639.hp1
HG01081.hp1
HG01978.hp1
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02559.hp1
HG02559.hp2
HG02809.hp2
HG03490.hp1
HG03579.hp1
HG04115.hp2
NA18953.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-42675T>C
c.576-42675T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156714906
chr5:156714952 G
G
A
A
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-42629G>A
c.576-42629G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156714952
chr5:156714974 C
C
A
A
27 a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
others(24): Show 
a0001c0001t0001g0122
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0021g0027
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
27 HG00558.hp2
HG00639.hp2
HG01243.hp2
others(24): Show 
HG00558.hp2
HG00639.hp2
HG01243.hp2
HG01891.hp1
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02698.hp2
HG02965.hp2
HG03098.hp1
HG03453.hp1
HG03579.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA20129.hp2
intron_variant MODIFIER c.576-42607C>A
c.576-42607C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156714974
chr5:156715091 C
C
T
T
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.576-42490C>T
c.576-42490C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156715091
chr5:156715553 T
T
C
C
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
11 HG01243.hp1
HG01981.hp1
HG02615.hp1
others(8): Show 
HG01243.hp1
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-42028T>C
c.576-42028T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156715553
chr5:156715562 T
T
C
C
8 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(5): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
8 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(5): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA20805.hp2
intron_variant MODIFIER c.576-42019T>C
c.576-42019T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156715562
chr5:156715763 G
G
A
A
4 a0001c0001t0006g0041
a0001c0001t0021g0027
a0001c0001t0045g0137
others(1): Show 
a0001c0001t0006g0041
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0002t0053g0085
4 HG01891.hp1
HG02965.hp2
HG03453.hp1
others(1): Show 
HG01891.hp1
HG02965.hp2
HG03453.hp1
HG03579.hp2
intron_variant MODIFIER c.576-41818G>A
c.576-41818G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156715763
chr5:156716174 G
G
A
A
1 a0001c0001t0020g0017
a0001c0001t0020g0017
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.576-41407G>A
c.576-41407G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156716174
chr5:156716584 G
G
A
A
1 a0001c0002t0015g0086
a0001c0002t0015g0086
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.576-40997G>A
c.576-40997G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156716584
chr5:156716672 C
C
T
T
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.576-40909C>T
c.576-40909C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156716672
chr5:156716710 C
C
T
T
1 a0001c0002t0004g0106
a0001c0002t0004g0106
1 HG01891.hp2
HG01891.hp2
intron_variant MODIFIER c.576-40871C>T
c.576-40871C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156716710
chr5:156717194 A
A
G
G
5 a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
others(2): Show 
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0023g0112
5 HG02698.hp2
HG03098.hp1
NA18990.hp2
others(2): Show 
HG02698.hp2
HG03098.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
intron_variant MODIFIER c.576-40387A>G
c.576-40387A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156717194
chr5:156717635 C
C
G
G
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.576-39946C>G
c.576-39946C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156717635
chr5:156717704 C
C
T
T
2 a0001c0001t0021g0046
a0001c0002t0024g0100
a0001c0001t0021g0046
a0001c0002t0024g0100
2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
intron_variant MODIFIER c.576-39877C>T
c.576-39877C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156717704
chr5:156717724 G
G
C
C
8 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(5): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
8 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(5): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA20805.hp2
intron_variant MODIFIER c.576-39857G>C
c.576-39857G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156717724
chr5:156717772 T
T
C
C
77 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0068
others(74): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0004c0007t0020g0012
77 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(74): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.576-39809T>C
c.576-39809T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156717772
chr5:156717833 A
A
T
T
8 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(5): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
8 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(5): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA20805.hp2
intron_variant MODIFIER c.576-39748A>T
c.576-39748A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156717833
chr5:156717894 C
C
G
G
5 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
others(2): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0029g0024
a0001c0001t0042g0065
5 HG02809.hp1
HG02895.hp1
HG02922.hp2
others(2): Show 
HG02809.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp1
HG03098.hp2
intron_variant MODIFIER c.576-39687C>G
c.576-39687C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156717894
chr5:156717900 T
T
C
C
78 a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0068
others(75): Show 
a0001c0001t0001g0015
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0122
a0001c0001t0001g0147
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0006t0018g0145
a0004c0007t0020g0012
78 HG00558.hp2
HG00639.hp2
HG01081.hp2
others(75): Show 
HG00558.hp2
HG00639.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp2
NA18522.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp2
NA19066.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.576-39681T>C
c.576-39681T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156717900
chr5:156718094 C
C
A
A
1 a0001c0002t0015g0081
a0001c0002t0015g0081
1 NA19003.hp2
NA19003.hp2
intron_variant MODIFIER c.576-39487C>A
c.576-39487C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156718094
chr5:156718108 C
C
T
T
8 a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
others(5): Show 
a0001c0001t0001g0015
a0001c0001t0003g0125
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0002t0005g0097
a0001c0002t0008g0115
8 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(5): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02129.hp2
HG03239.hp2
NA20805.hp2
intron_variant MODIFIER c.576-39473C>T
c.576-39473C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156718108
chr5:156718228 A
A
G
G
17 a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
others(14): Show 
a0001c0001t0001g0050
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0049g0149
a0001c0002t0008g0006
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
17 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(14): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01978.hp2
HG02040.hp1
HG02055.hp2
HG02145.hp2
HG02615.hp2
HG03130.hp2
HG03471.hp2
NA18522.hp2
NA18959.hp1
NA19030.hp1
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.576-39353A>G
c.576-39353A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156718228
chr5:156718258 C
C
T
T
2 a0001c0001t0001g0019
a0001c0002t0015g0081
a0001c0001t0001g0019
a0001c0002t0015g0081
2 HG01081.hp1
NA19003.hp2
HG01081.hp1
NA19003.hp2
intron_variant MODIFIER c.576-39323C>T
c.576-39323C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156718258
chr5:156718325 A
A
T
T
7 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0032g0020
others(4): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0032g0020
a0001c0002t0005g0082
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
7 HG02055.hp1
HG02056.hp1
HG02257.hp1
others(4): Show 
HG02055.hp1
HG02056.hp1
HG02257.hp1
HG02723.hp2
HG03490.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.576-39256A>T
c.576-39256A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156718325
chr5:156718546 G
G
A
A
2 a0001c0001t0006g0037
a0001c0001t0036g0043
a0001c0001t0006g0037
a0001c0001t0036g0043
2 HG02258.hp2
NA18906.hp1
HG02258.hp2
NA18906.hp1
intron_variant MODIFIER c.576-39035G>A
c.576-39035G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156718546
chr5:156718643 T
T
A
A
136 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(133): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0092
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
136 HG00558.hp1
HG00558.hp2
HG00639.hp2
others(133): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-38938T>A
c.576-38938T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156718643
chr5:156718653 A
A
T
T
24 a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
others(21): Show 
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0026g0016
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0049g0149
a0001c0002t0002g0095
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0006t0018g0145
24 HG01243.hp1
HG01981.hp1
HG02055.hp1
others(21): Show 
HG01243.hp1
HG01981.hp1
HG02055.hp1
HG02257.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp1
NA18906.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19043.hp1
NA19240.hp1
intron_variant MODIFIER c.576-38928A>T
c.576-38928A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156718653
chr5:156718739 C
C
T
T
15 a0001c0001t0003g0125
a0001c0001t0009g0067
a0001c0001t0009g0142
others(12): Show 
a0001c0001t0003g0125
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0022g0064
a0001c0001t0030g0135
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0049g0149
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0022g0029
a0001c0002t0050g0072
a0001c0002t0057g0110
15 HG01081.hp2
HG01109.hp1
HG01169.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01256.hp2
HG01516.hp1
HG02055.hp1
HG02723.hp2
HG02922.hp2
HG03041.hp2
HG03130.hp2
HG03239.hp2
NA18906.hp2
NA19043.hp1
NA20300.hp2
NA20805.hp2
intron_variant MODIFIER c.576-38842C>T
c.576-38842C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156718739
chr5:156718759 A
A
G
G
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.576-38822A>G
c.576-38822A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156718759
chr5:156718805 CAA
CAA
C
C
24 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
others(21): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0014g0048
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0046g0121
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0008g0006
a0001c0002t0015g0078
a0001c0002t0022g0029
a0001c0002t0024g0100
a0001c0002t0050g0072
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
24 HG01109.hp2
HG01256.hp1
HG01258.hp1
others(21): Show 
HG01109.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02622.hp1
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03486.hp2
NA18906.hp2
NA18959.hp1
NA19043.hp1
NA20300.hp2
intron_variant MODIFIER c.576-38761_576-3876
others(6): Show 
c.576-38761_576-38760delAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156718805
chr5:156718805 CAAA
CAAA
C
C
35 a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0143
others(32): Show 
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0003g0125
a0001c0001t0006g0038
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0047g0003
a0001c0002t0002g0069
a0001c0002t0002g0095
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0044g0026
35 HG01071.hp1
HG01081.hp2
HG01109.hp1
others(32): Show 
HG01071.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01516.hp1
HG01981.hp1
HG02145.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03579.hp1
NA18522.hp2
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
intron_variant MODIFIER c.576-38762_576-3876
others(7): Show 
c.576-38762_576-38760delAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156718805
chr5:156718845 A
A
G
G
27 a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0143
others(24): Show 
a0001c0001t0001g0058
a0001c0001t0001g0117
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0006g0038
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0033g0141
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0002g0069
a0001c0002t0002g0095
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0060g0074
27 HG01071.hp1
HG01243.hp1
HG01981.hp1
others(24): Show 
HG01071.hp1
HG01243.hp1
HG01981.hp1
HG02145.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03579.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19240.hp1
NA19240.hp2
intron_variant MODIFIER c.576-38736A>G
c.576-38736A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156718845
chr5:156719276 A
A
G
G
1 a0001c0002t0028g0034
a0001c0002t0028g0034
1 HG02717.hp1
HG02717.hp1
intron_variant MODIFIER c.576-38305A>G
c.576-38305A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156719276
chr5:156719375 T
T
TTA
TTA
19 a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
others(16): Show 
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0006g0066
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0004g0088
a0001c0002t0011g0083
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0002c0003t0003g0140
a0004c0007t0020g0012
19 HG00639.hp1
HG01256.hp1
HG01258.hp1
others(16): Show 
HG00639.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG02055.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02559.hp1
HG02615.hp2
HG02970.hp1
HG03139.hp1
HG03471.hp2
HG03486.hp2
NA18522.hp2
NA18959.hp1
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.576-38203_576-3820
others(6): Show 
c.576-38203_576-38202dupTA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156719375
chr5:156719380 G
G
T
T
143 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(140): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
143 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(140): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.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
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-38201G>T
c.576-38201G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156719380
chr5:156719401 T
T
TAC
TAC
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0041g0028
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02723.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-38166_576-3816
others(6): Show 
c.576-38166_576-38165dupCA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156719401
chr5:156719441 A
A
G
G
105 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(102): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0022g0064
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0076
a0001c0002t0010g0005
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
105 HG00558.hp1
HG00639.hp1
HG01070.hp2
others(102): Show 
HG00558.hp1
HG00639.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-38140A>G
c.576-38140A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156719441
chr5:156719459 G
G
A
A
5 a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0009g0036
others(2): Show 
a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0009g0036
a0001c0004t0001g0009
a0001c0004t0017g0007
5 HG02630.hp2
HG02895.hp1
HG02922.hp1
others(2): Show 
HG02630.hp2
HG02895.hp1
HG02922.hp1
HG03486.hp1
NA18522.hp1
intron_variant MODIFIER c.576-38122G>A
c.576-38122G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156719459
chr5:156719739 T
T
C
C
1 a0001c0001t0001g0023
a0001c0001t0001g0023
1 HG03704.hp2
HG03704.hp2
intron_variant MODIFIER c.576-37842T>C
c.576-37842T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156719739
chr5:156719914 C
C
T
T
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-37667C>T
c.576-37667C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156719914
chr5:156720354 C
C
T
T
60 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(57): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0150
a0001c0001t0003g0018
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0005g0082
a0001c0002t0008g0076
a0001c0002t0010g0005
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0058g0089
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
60 HG00558.hp1
HG01081.hp1
HG01109.hp2
others(57): Show 
HG00558.hp1
HG01081.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-37227C>T
c.576-37227C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156720354
chr5:156720813 A
A
G
G
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.576-36768A>G
c.576-36768A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156720813
chr5:156721273 G
G
A
A
3 a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0001t0020g0017
a0001c0002t0011g0083
a0001c0002t0011g0084
3 HG01243.hp2
HG02258.hp1
HG02622.hp1
HG01243.hp2
HG02258.hp1
HG02622.hp1
intron_variant MODIFIER c.576-36308G>A
c.576-36308G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156721273
chr5:156721564 G
G
T
T
1 a0001c0001t0009g0142
a0001c0001t0009g0142
1 NA19043.hp1
NA19043.hp1
intron_variant MODIFIER c.576-36017G>T
c.576-36017G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156721564
chr5:156721619 C
C
G
G
114 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(111): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
114 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(111): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-35962C>G
c.576-35962C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156721619
chr5:156721631 C
C
A
A
114 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(111): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
114 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(111): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19066.hp1
NA19066.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-35950C>A
c.576-35950C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156721631
chr5:156721743 C
C
T
T
1 a0001c0002t0022g0029
a0001c0002t0022g0029
1 NA20300.hp2
NA20300.hp2
intron_variant MODIFIER c.576-35838C>T
c.576-35838C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156721743
chr5:156721915 A
A
G
G
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.576-35666A>G
c.576-35666A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156721915
chr5:156722131 G
G
A
A
1 a0001c0001t0006g0041
a0001c0001t0006g0041
1 HG03579.hp2
HG03579.hp2
intron_variant MODIFIER c.576-35450G>A
c.576-35450G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156722131
chr5:156722142 G
G
A
A
27 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(24): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0059g0002
a0004c0007t0020g0012
27 HG01070.hp1
HG01071.hp1
HG01169.hp1
others(24): Show 
HG01070.hp1
HG01071.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
NA18959.hp1
NA19240.hp1
NA20129.hp1
intron_variant MODIFIER c.576-35439G>A
c.576-35439G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156722142
chr5:156722224 C
C
T
T
8 a0001c0001t0006g0066
a0001c0001t0021g0046
a0001c0001t0046g0121
others(5): Show 
a0001c0001t0006g0066
a0001c0001t0021g0046
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0059g0002
a0004c0007t0020g0012
8 HG01256.hp1
HG01258.hp1
HG01261.hp2
others(5): Show 
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG02970.hp1
HG03471.hp2
NA18959.hp1
NA20129.hp1
intron_variant MODIFIER c.576-35357C>T
c.576-35357C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156722224
chr5:156722350 A
A
G
G
1 a0001c0001t0006g0040
a0001c0001t0006g0040
1 HG03471.hp1
HG03471.hp1
intron_variant MODIFIER c.576-35231A>G
c.576-35231A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156722350
chr5:156722451 C
C
A
A
6 a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
others(3): Show 
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG02055.hp1
HG02723.hp2
HG02895.hp1
others(3): Show 
HG02055.hp1
HG02723.hp2
HG02895.hp1
HG03139.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.576-35130C>A
c.576-35130C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156722451
chr5:156722710 C
C
T
T
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-34871C>T
c.576-34871C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156722710
chr5:156722712 T
T
C
C
1 a0001c0001t0042g0065
a0001c0001t0042g0065
1 HG02922.hp2
HG02922.hp2
intron_variant MODIFIER c.576-34869T>C
c.576-34869T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156722712
chr5:156722980 T
T
C
C
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.576-34601T>C
c.576-34601T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156722980
chr5:156723005 A
A
G
G
1 a0001c0002t0002g0095
a0001c0002t0002g0095
1 HG03239.hp1
HG03239.hp1
intron_variant MODIFIER c.576-34576A>G
c.576-34576A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156723005
chr5:156723022 C
C
T
T
26 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(23): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0059g0002
a0004c0007t0020g0012
26 HG01070.hp1
HG01071.hp1
HG01169.hp1
others(23): Show 
HG01070.hp1
HG01071.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03471.hp2
NA18959.hp1
NA19240.hp1
NA20129.hp1
intron_variant MODIFIER c.576-34559C>T
c.576-34559C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156723022
chr5:156723023 G
G
A
A
7 a0001c0001t0001g0122
a0001c0001t0007g0123
a0001c0001t0007g0124
others(4): Show 
a0001c0001t0001g0122
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0002t0054g0073
7 HG02083.hp2
HG02155.hp2
NA18966.hp1
others(4): Show 
HG02083.hp2
HG02155.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp1
NA19011.hp2
NA19066.hp1
intron_variant MODIFIER c.576-34558G>A
c.576-34558G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156723023
chr5:156723073 G
G
A
A
8 a0001c0001t0006g0066
a0001c0001t0021g0046
a0001c0001t0046g0121
others(5): Show 
a0001c0001t0006g0066
a0001c0001t0021g0046
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0059g0002
a0004c0007t0020g0012
8 HG01256.hp1
HG01258.hp1
HG01261.hp2
others(5): Show 
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG02970.hp1
HG03471.hp2
NA18959.hp1
NA20129.hp1
intron_variant MODIFIER c.576-34508G>A
c.576-34508G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156723073
chr5:156723405 C
C
T
T
1 a0001c0001t0001g0122
a0001c0001t0001g0122
1 HG02083.hp2
HG02083.hp2
intron_variant MODIFIER c.576-34176C>T
c.576-34176C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156723405
chr5:156723492 G
G
A
A
2 a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0004t0001g0009
a0001c0004t0017g0007
2 HG02630.hp2
HG02922.hp1
HG02630.hp2
HG02922.hp1
intron_variant MODIFIER c.576-34089G>A
c.576-34089G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156723492
chr5:156723695 G
G
A
A
27 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(24): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
27 HG01070.hp1
HG01071.hp1
HG01169.hp1
others(24): Show 
HG01070.hp1
HG01071.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01981.hp1
HG02145.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03471.hp2
NA18959.hp1
NA19240.hp1
NA20129.hp1
intron_variant MODIFIER c.576-33886G>A
c.576-33886G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156723695
chr5:156723733 C
C
T
T
7 a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
others(4): Show 
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0004g0092
a0001c0002t0024g0063
a0001c0002t0053g0085
a0001c0002t0055g0091
7 HG00558.hp2
HG00639.hp2
HG01891.hp1
others(4): Show 
HG00558.hp2
HG00639.hp2
HG01891.hp1
HG02965.hp2
HG03453.hp1
NA18964.hp2
NA19003.hp1
intron_variant MODIFIER c.576-33848C>T
c.576-33848C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156723733
chr5:156723770 C
C
T
T
7 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
others(4): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0002t0002g0061
a0001c0006t0018g0145
a0003c0005t0001g0148
7 HG01109.hp2
HG02055.hp2
HG02257.hp1
others(4): Show 
HG01109.hp2
HG02055.hp2
HG02257.hp1
HG02257.hp2
HG02735.hp1
HG03139.hp1
HG03486.hp2
intron_variant MODIFIER c.576-33811C>T
c.576-33811C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156723770
chr5:156723801 C
C
T
T
2 a0001c0001t0001g0008
a0001c0001t0001g0150
a0001c0001t0001g0008
a0001c0001t0001g0150
2 HG03486.hp1
NA18522.hp1
HG03486.hp1
NA18522.hp1
intron_variant MODIFIER c.576-33780C>T
c.576-33780C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156723801
chr5:156723850 A
A
AGT
AGT
11 a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0046
others(8): Show 
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0002g0061
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0059g0002
a0004c0007t0020g0012
11 HG01256.hp1
HG01258.hp1
HG01261.hp2
others(8): Show 
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG02622.hp1
HG02970.hp1
HG03471.hp2
HG03486.hp2
NA18959.hp1
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.576-33704_576-3370
others(6): Show 
c.576-33704_576-33703dupGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156723850
chr5:156723850 A
A
AGTGT
AGTGT
13 a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0016g0120
others(10): Show 
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0016g0120
a0001c0001t0030g0135
a0001c0002t0005g0082
a0001c0002t0005g0097
a0001c0002t0008g0006
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0023g0112
a0001c0002t0061g0103
13 HG01071.hp1
HG01243.hp2
HG02040.hp1
others(10): Show 
HG01071.hp1
HG01243.hp2
HG02040.hp1
HG02258.hp1
HG03098.hp1
HG03239.hp2
HG03490.hp2
NA18959.hp2
NA19009.hp1
NA19011.hp1
NA19057.hp2
NA19090.hp1
NA20805.hp2
intron_variant MODIFIER c.576-33706_576-3370
others(8): Show 
c.576-33706_576-33703dupGTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156723850
chr5:156723850 A
A
AGTGTGT
AGTGTGT
11 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(8): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0041g0028
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0058g0089
11 HG01981.hp1
HG02145.hp2
HG02615.hp1
others(8): Show 
HG01981.hp1
HG02145.hp2
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
NA19030.hp1
NA19240.hp1
intron_variant MODIFIER c.576-33708_576-3370
others(10): Show 
c.576-33708_576-33703dupGTGTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156723850
chr5:156723850 A
A
AGTGTGTG
others(3): Show 
AGTGTGTGTGT
2 a0001c0002t0013g0030
a0001c0002t0028g0034
a0001c0002t0013g0030
a0001c0002t0028g0034
2 HG02717.hp1
HG02970.hp2
HG02717.hp1
HG02970.hp2
intron_variant MODIFIER c.576-33712_576-3370
others(14): Show 
c.576-33712_576-33703dupGTGTGTGTGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156723850
chr5:156723850 AGT
AGT
A
A
91 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(88): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
91 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(88): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18985.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-33704_576-3370
others(6): Show 
c.576-33704_576-33703delGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156723850
chr5:156723966 T
T
C
C
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.576-33615T>C
c.576-33615T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156723966
chr5:156724035 G
G
A
A
103 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(100): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
103 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(100): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-33546G>A
c.576-33546G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156724035
chr5:156724251 T
T
C
C
2 a0001c0001t0047g0003
a0001c0002t0044g0026
a0001c0001t0047g0003
a0001c0002t0044g0026
2 HG03471.hp2
NA20129.hp1
HG03471.hp2
NA20129.hp1
intron_variant MODIFIER c.576-33330T>C
c.576-33330T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156724251
chr5:156724280 A
A
G
G
1 a0001c0001t0027g0011
a0001c0001t0027g0011
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.576-33301A>G
c.576-33301A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156724280
chr5:156724431 C
C
T
T
5 a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
others(2): Show 
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0002t0024g0063
a0001c0002t0053g0085
5 HG00639.hp2
HG01891.hp1
HG02965.hp2
others(2): Show 
HG00639.hp2
HG01891.hp1
HG02965.hp2
HG03453.hp1
NA19003.hp1
intron_variant MODIFIER c.576-33150C>T
c.576-33150C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156724431
chr5:156724455 AC
AC
A
A
4 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(1): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0042g0065
4 HG01070.hp1
HG01169.hp1
HG02723.hp1
others(1): Show 
HG01070.hp1
HG01169.hp1
HG02723.hp1
HG02922.hp2
intron_variant MODIFIER c.576-33125delC
c.576-33125delC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156724455
chr5:156724476 G
G
A
A
1 a0001c0001t0006g0066
a0001c0001t0006g0066
1 HG02970.hp1
HG02970.hp1
intron_variant MODIFIER c.576-33105G>A
c.576-33105G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156724476
chr5:156724955 A
A
C
C
4 a0001c0001t0038g0044
a0001c0002t0004g0092
a0001c0002t0004g0104
others(1): Show 
a0001c0001t0038g0044
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0055g0091
4 HG00558.hp2
HG02056.hp2
HG02083.hp1
others(1): Show 
HG00558.hp2
HG02056.hp2
HG02083.hp1
NA18964.hp2
intron_variant MODIFIER c.576-32626A>C
c.576-32626A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156724955
chr5:156724989 A
A
G
G
11 a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0045g0137
others(8): Show 
a0001c0001t0021g0027
a0001c0001t0026g0016
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0024g0063
a0001c0002t0053g0085
11 HG00639.hp2
HG01891.hp1
HG02071.hp2
others(8): Show 
HG00639.hp2
HG01891.hp1
HG02071.hp2
HG02698.hp2
HG02965.hp2
HG03130.hp2
HG03453.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp2
intron_variant MODIFIER c.576-32592A>G
c.576-32592A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156724989
chr5:156725205 T
T
C
C
3 a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0002t0053g0085
a0001c0001t0021g0027
a0001c0001t0045g0137
a0001c0002t0053g0085
3 HG01891.hp1
HG02965.hp2
HG03453.hp1
HG01891.hp1
HG02965.hp2
HG03453.hp1
intron_variant MODIFIER c.576-32376T>C
c.576-32376T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156725205
chr5:156725360 A
A
G
G
2 a0001c0001t0003g0056
a0001c0002t0004g0113
a0001c0001t0003g0056
a0001c0002t0004g0113
2 HG01070.hp2
HG01071.hp2
HG01070.hp2
HG01071.hp2
intron_variant MODIFIER c.576-32221A>G
c.576-32221A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156725360
chr5:156725850 AAAAC
AAAAC
A
A
6 a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
others(3): Show 
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG02055.hp1
HG02723.hp2
HG02895.hp1
others(3): Show 
HG02055.hp1
HG02723.hp2
HG02895.hp1
HG03139.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.576-31726_576-3172
others(8): Show 
c.576-31726_576-31723delAAAC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156725850
chr5:156725871 A
A
G
G
13 a0001c0001t0001g0050
a0001c0001t0006g0066
a0001c0001t0020g0017
others(10): Show 
a0001c0001t0001g0050
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0059g0002
a0004c0007t0020g0012
13 HG01243.hp2
HG01256.hp1
HG01258.hp1
others(10): Show 
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG02258.hp1
HG02622.hp1
HG02970.hp1
HG03471.hp2
NA18522.hp2
NA18959.hp1
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.576-31710A>G
c.576-31710A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156725871
chr5:156725909 G
G
A
A
104 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(101): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
104 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(101): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-31672G>A
c.576-31672G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156725909
chr5:156726128 G
G
A
A
31 a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
others(28): Show 
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0029g0024
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
31 HG01070.hp1
HG01071.hp1
HG01169.hp1
others(28): Show 
HG01070.hp1
HG01071.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01981.hp1
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03471.hp2
NA18959.hp1
NA19240.hp1
NA20129.hp1
intron_variant MODIFIER c.576-31453G>A
c.576-31453G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156726128
chr5:156726201 C
C
T
T
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-31380C>T
c.576-31380C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156726201
chr5:156726388 G
G
A
A
44 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(41): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0018
a0001c0001t0018g0039
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0008g0076
a0001c0002t0010g0005
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0051g0099
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
44 HG00558.hp1
HG01081.hp1
HG01256.hp2
others(41): Show 
HG00558.hp1
HG01081.hp1
HG01256.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02809.hp2
HG02922.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-31193G>A
c.576-31193G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156726388
chr5:156726502 A
A
T
T
105 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(102): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
105 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(102): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-31079A>T
c.576-31079A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156726502
chr5:156726634 C
C
T
T
1 a0001c0001t0007g0138
a0001c0001t0007g0138
1 NA19066.hp1
NA19066.hp1
intron_variant MODIFIER c.576-30947C>T
c.576-30947C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156726634
chr5:156726700 C
C
T
T
3 a0001c0001t0006g0038
a0001c0001t0016g0120
a0001c0001t0029g0024
a0001c0001t0006g0038
a0001c0001t0016g0120
a0001c0001t0029g0024
3 HG01071.hp1
HG02809.hp1
HG03098.hp2
HG01071.hp1
HG02809.hp1
HG03098.hp2
intron_variant MODIFIER c.576-30881C>T
c.576-30881C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156726700
chr5:156727068 G
G
C
C
6 a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
others(3): Show 
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG02055.hp1
HG02723.hp2
HG02895.hp1
others(3): Show 
HG02055.hp1
HG02723.hp2
HG02895.hp1
HG03139.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.576-30513G>C
c.576-30513G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156727068
chr5:156727133 T
T
A
A
109 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(106): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
109 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(106): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-30448T>A
c.576-30448T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156727133
chr5:156727326 G
G
A
A
115 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(112): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0026g0016
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0042g0065
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
115 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(112): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-30255G>A
c.576-30255G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156727326
chr5:156727336 T
T
G
G
22 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(19): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0059g0002
a0004c0007t0020g0012
22 HG01243.hp2
HG01256.hp1
HG01258.hp1
others(19): Show 
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01981.hp1
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp2
NA18959.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.576-30245T>G
c.576-30245T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156727336
chr5:156727467 A
A
G
G
13 a0001c0001t0001g0050
a0001c0001t0006g0066
a0001c0001t0020g0017
others(10): Show 
a0001c0001t0001g0050
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0059g0002
a0004c0007t0020g0012
13 HG01243.hp2
HG01256.hp1
HG01258.hp1
others(10): Show 
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG02258.hp1
HG02622.hp1
HG02970.hp1
HG03471.hp2
NA18522.hp2
NA18959.hp1
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.576-30114A>G
c.576-30114A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156727467
chr5:156727684 TC
TC
T
T
44 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(41): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0018
a0001c0001t0018g0039
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0008g0076
a0001c0002t0010g0005
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0051g0099
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
44 HG00558.hp1
HG01081.hp1
HG01256.hp2
others(41): Show 
HG00558.hp1
HG01081.hp1
HG01256.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02809.hp2
HG02922.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-29896delC
c.576-29896delC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156727684
chr5:156727689 G
G
A
A
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-29892G>A
c.576-29892G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156727689
chr5:156727706 A
A
G
G
1 a0001c0001t0039g0004
a0001c0001t0039g0004
1 HG04115.hp1
HG04115.hp1
intron_variant MODIFIER c.576-29875A>G
c.576-29875A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156727706
chr5:156727728 G
G
A
A
131 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(128): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
131 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(128): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-29853G>A
c.576-29853G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156727728
chr5:156728144 C
C
T
T
86 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(83): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
86 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(83): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-29437C>T
c.576-29437C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156728144
chr5:156728163 C
C
T
T
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-29418C>T
c.576-29418C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156728163
chr5:156728357 C
C
G
G
17 a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
others(14): Show 
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0059g0002
a0004c0007t0020g0012
17 HG00639.hp2
HG01243.hp2
HG01256.hp1
others(14): Show 
HG00639.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02258.hp1
HG02622.hp1
HG02965.hp2
HG02970.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20129.hp2
intron_variant MODIFIER c.576-29224C>G
c.576-29224C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156728357
chr5:156728498 G
G
A
A
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.576-29083G>A
c.576-29083G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156728498
chr5:156728508 C
C
CAA
CAA
58 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(55): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0050
a0001c0001t0001g0058
a0001c0001t0001g0122
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0005g0129
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0138
a0001c0001t0016g0120
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0040g0131
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0107
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0011g0090
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0023g0112
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0060g0074
a0001c0004t0001g0009
a0003c0005t0001g0148
58 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(55): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03704.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18990.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-29046_576-2904
others(6): Show 
c.576-29046_576-29045dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156728508
chr5:156728508 C
C
CAAA
CAAA
28 a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
others(25): Show 
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0150
a0001c0001t0003g0136
a0001c0001t0007g0134
a0001c0001t0016g0144
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0039g0004
a0001c0002t0002g0061
a0001c0002t0002g0080
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0023g0071
a0001c0002t0052g0111
a0001c0004t0017g0007
a0002c0003t0003g0140
a0002c0003t0017g0014
28 HG01109.hp2
HG01243.hp1
HG01978.hp1
others(25): Show 
HG01109.hp2
HG01243.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02257.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG03139.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18964.hp1
NA18985.hp2
NA19002.hp2
NA19010.hp1
NA19030.hp1
NA19090.hp2
intron_variant MODIFIER c.576-29047_576-2904
others(7): Show 
c.576-29047_576-29045dupAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156728508
chr5:156728508 C
C
CAAAA
CAAAA
5 a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0029g0024
others(2): Show 
a0001c0001t0006g0038
a0001c0001t0006g0041
a0001c0001t0029g0024
a0001c0002t0004g0079
a0001c0006t0018g0145
5 HG02257.hp1
HG02809.hp1
HG03098.hp2
others(2): Show 
HG02257.hp1
HG02809.hp1
HG03098.hp2
HG03579.hp2
NA20300.hp1
intron_variant MODIFIER c.576-29048_576-2904
others(8): Show 
c.576-29048_576-29045dupAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156728508
chr5:156728508 CA
CA
C
C
27 a0001c0001t0006g0066
a0001c0001t0012g0059
a0001c0001t0012g0060
others(24): Show 
a0001c0001t0006g0066
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0026g0016
a0001c0001t0041g0028
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0083
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0059g0002
a0004c0007t0020g0012
27 HG00639.hp2
HG01256.hp1
HG01258.hp1
others(24): Show 
HG00639.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp2
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19240.hp1
NA20129.hp1
intron_variant MODIFIER c.576-29045delA
c.576-29045delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156728508
chr5:156728508 CAAAAAAA
others(1): Show 
CAAAAAAAA
C
C
6 a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
others(3): Show 
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG02055.hp1
HG02723.hp2
HG02895.hp1
others(3): Show 
HG02055.hp1
HG02723.hp2
HG02895.hp1
HG03139.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.576-29052_576-2904
others(12): Show 
c.576-29052_576-29045delAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156728508
chr5:156728580 C
C
A
A
1 a0001c0001t0001g0023
a0001c0001t0001g0023
1 HG03704.hp2
HG03704.hp2
intron_variant MODIFIER c.576-29001C>A
c.576-29001C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156728580
chr5:156728603 C
C
A
A
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.576-28978C>A
c.576-28978C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156728603
chr5:156728603 C
C
G
G
16 a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
others(13): Show 
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0059g0002
a0004c0007t0020g0012
16 HG00639.hp2
HG01243.hp2
HG01256.hp1
others(13): Show 
HG00639.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02258.hp1
HG02622.hp1
HG02965.hp2
HG02970.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
intron_variant MODIFIER c.576-28978C>G
c.576-28978C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156728603
chr5:156728725 C
C
T
T
1 a0001c0006t0018g0145
a0001c0006t0018g0145
1 HG02257.hp1
HG02257.hp1
intron_variant MODIFIER c.576-28856C>T
c.576-28856C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156728725
chr5:156728726 G
G
A
A
1 a0001c0001t0006g0038
a0001c0001t0006g0038
1 HG02809.hp1
HG02809.hp1
intron_variant MODIFIER c.576-28855G>A
c.576-28855G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156728726
chr5:156728821 A
A
G
G
18 a0001c0001t0001g0050
a0001c0001t0006g0066
a0001c0001t0020g0017
others(15): Show 
a0001c0001t0001g0050
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0059g0002
a0004c0007t0020g0012
18 HG00639.hp2
HG01243.hp2
HG01256.hp1
others(15): Show 
HG00639.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02258.hp1
HG02622.hp1
HG02965.hp2
HG02970.hp1
HG03453.hp1
HG03471.hp2
NA18522.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-28760A>G
c.576-28760A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156728821
chr5:156728905 C
C
A
A
1 a0001c0002t0058g0089
a0001c0002t0058g0089
1 HG02145.hp2
HG02145.hp2
intron_variant MODIFIER c.576-28676C>A
c.576-28676C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156728905
chr5:156729410 C
C
T
T
17 a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
others(14): Show 
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0059g0002
a0004c0007t0020g0012
17 HG00639.hp2
HG01243.hp2
HG01256.hp1
others(14): Show 
HG00639.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02258.hp1
HG02622.hp1
HG02965.hp2
HG02970.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-28171C>T
c.576-28171C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156729410
chr5:156730350 G
G
A
A
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.576-27231G>A
c.576-27231G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156730350
chr5:156730650 G
G
A
A
100 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(97): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
100 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(97): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.576-26931G>A
c.576-26931G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156730650
chr5:156730859 C
C
G
G
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.576-26722C>G
c.576-26722C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156730859
chr5:156730911 T
T
C
C
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.576-26670T>C
c.576-26670T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156730911
chr5:156731345 G
G
A
A
103 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(100): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
103 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(100): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.576-26236G>A
c.576-26236G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156731345
chr5:156731348 T
T
C
C
1 a0001c0002t0002g0075
a0001c0002t0002g0075
1 NA19009.hp2
NA19009.hp2
intron_variant MODIFIER c.576-26233T>C
c.576-26233T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156731348
chr5:156731862 C
C
T
T
1 a0001c0002t0052g0111
a0001c0002t0052g0111
1 HG03453.hp2
HG03453.hp2
intron_variant MODIFIER c.576-25719C>T
c.576-25719C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156731862
chr5:156731910 G
G
A
A
3 a0001c0001t0001g0068
a0001c0001t0001g0116
a0003c0005t0001g0148
a0001c0001t0001g0068
a0001c0001t0001g0116
a0003c0005t0001g0148
3 HG01109.hp2
HG02055.hp2
HG02735.hp1
HG01109.hp2
HG02055.hp2
HG02735.hp1
intron_variant MODIFIER c.576-25671G>A
c.576-25671G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156731910
chr5:156731913 G
G
A
A
1 a0001c0002t0010g0001
a0001c0002t0010g0001
1 NA18990.hp2
NA18990.hp2
intron_variant MODIFIER c.576-25668G>A
c.576-25668G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156731913
chr5:156732026 G
G
A
A
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.576-25555G>A
c.576-25555G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156732026
chr5:156732272 T
T
A
A
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-25309T>A
c.576-25309T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156732272
chr5:156732738 G
G
A
A
1 a0001c0002t0058g0089
a0001c0002t0058g0089
1 HG02145.hp2
HG02145.hp2
intron_variant MODIFIER c.576-24843G>A
c.576-24843G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156732738
chr5:156732990 C
C
T
T
104 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(101): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
104 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(101): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.576-24591C>T
c.576-24591C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156732990
chr5:156733426 T
T
C
C
4 a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0002t0002g0075
others(1): Show 
a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0002t0002g0075
a0001c0002t0015g0078
4 HG02129.hp2
HG02155.hp1
HG03704.hp2
others(1): Show 
HG02129.hp2
HG02155.hp1
HG03704.hp2
NA19009.hp2
intron_variant MODIFIER c.576-24155T>C
c.576-24155T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156733426
chr5:156733594 T
T
C
C
1 a0001c0002t0002g0107
a0001c0002t0002g0107
1 HG02129.hp1
HG02129.hp1
intron_variant MODIFIER c.576-23987T>C
c.576-23987T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156733594
chr5:156733736 T
T
C
C
1 a0001c0001t0016g0120
a0001c0001t0016g0120
1 HG01071.hp1
HG01071.hp1
intron_variant MODIFIER c.576-23845T>C
c.576-23845T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156733736
chr5:156733963 A
A
G
G
6 a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
others(3): Show 
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG02055.hp1
HG02723.hp2
HG02895.hp1
others(3): Show 
HG02055.hp1
HG02723.hp2
HG02895.hp1
HG03139.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.576-23618A>G
c.576-23618A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156733963
chr5:156734234 C
C
A
A
18 a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
others(15): Show 
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0059g0002
a0004c0007t0020g0012
18 HG00639.hp2
HG01243.hp2
HG01256.hp1
others(15): Show 
HG00639.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02258.hp1
HG02622.hp1
HG02965.hp2
HG02970.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-23347C>A
c.576-23347C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156734234
chr5:156734310 CT
CT
C
C
51 a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
others(48): Show 
a0001c0001t0001g0117
a0001c0001t0006g0038
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
51 HG00639.hp2
HG01070.hp1
HG01071.hp1
others(48): Show 
HG00639.hp2
HG01070.hp1
HG01071.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02055.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp2
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-23260delT
c.576-23260delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156734310
chr5:156734462 C
C
A
A
4 a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
others(1): Show 
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0136
a0001c0002t0056g0096
4 HG02698.hp1
HG02897.hp2
HG03704.hp1
others(1): Show 
HG02698.hp1
HG02897.hp2
HG03704.hp1
NA20805.hp1
intron_variant MODIFIER c.576-23119C>A
c.576-23119C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156734462
chr5:156734525 G
G
A
A
33 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(30): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
33 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(30): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-23056G>A
c.576-23056G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156734525
chr5:156734678 T
T
C
C
33 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(30): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
33 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(30): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-22903T>C
c.576-22903T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156734678
chr5:156735169 T
T
C
C
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.576-22412T>C
c.576-22412T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156735169
chr5:156735641 G
G
A
A
3 a0001c0001t0003g0018
a0001c0001t0032g0020
a0001c0002t0051g0099
a0001c0001t0003g0018
a0001c0001t0032g0020
a0001c0002t0051g0099
3 HG02056.hp1
HG03490.hp1
NA19066.hp2
HG02056.hp1
HG03490.hp1
NA19066.hp2
intron_variant MODIFIER c.576-21940G>A
c.576-21940G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156735641
chr5:156735648 T
T
C
C
1 a0001c0001t0040g0131
a0001c0001t0040g0131
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.576-21933T>C
c.576-21933T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156735648
chr5:156735848 T
T
G
G
57 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(54): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0018
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0017g0014
a0003c0005t0001g0148
57 HG00558.hp1
HG01081.hp1
HG01109.hp2
others(54): Show 
HG00558.hp1
HG01081.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02735.hp1
HG02809.hp2
HG02922.hp1
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
intron_variant MODIFIER c.576-21733T>G
c.576-21733T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156735848
chr5:156736452 T
T
C
C
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.576-21129T>C
c.576-21129T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156736452
chr5:156736486 C
C
CCATAAAA
others(13): Show 
CCATAAAAAACACTTACCTTT
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-21094_576-2107
others(24): Show 
c.576-21094_576-21075dupCATAAAAAACACTTACCTTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156736486
chr5:156736747 G
G
A
A
1 a0001c0006t0018g0145
a0001c0006t0018g0145
1 HG02257.hp1
HG02257.hp1
intron_variant MODIFIER c.576-20834G>A
c.576-20834G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156736747
chr5:156737177 G
G
T
T
36 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(33): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
36 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(33): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-20404G>T
c.576-20404G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156737177
chr5:156737292 G
G
GTGAT
GTGAT
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-20288_576-2028
others(8): Show 
c.576-20288_576-20285dupTGAT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156737292
chr5:156737329 A
A
G
G
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.576-20252A>G
c.576-20252A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156737329
chr5:156737391 T
T
G
G
2 a0001c0001t0003g0018
a0001c0001t0032g0020
a0001c0001t0003g0018
a0001c0001t0032g0020
2 HG02056.hp1
HG03490.hp1
HG02056.hp1
HG03490.hp1
intron_variant MODIFIER c.576-20190T>G
c.576-20190T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156737391
chr5:156737502 G
G
A
A
137 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(134): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
137 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(134): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-20079G>A
c.576-20079G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156737502
chr5:156737735 G
G
A
A
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-19846G>A
c.576-19846G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156737735
chr5:156737742 A
A
G
G
1 a0001c0001t0006g0066
a0001c0001t0006g0066
1 HG02970.hp1
HG02970.hp1
intron_variant MODIFIER c.576-19839A>G
c.576-19839A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156737742
chr5:156737830 T
T
TGCTAGTC
others(24): Show 
TGCTAGTCCAACCCTCTCATTGTATACAGGAG
2 a0001c0001t0001g0122
a0001c0001t0038g0044
a0001c0001t0001g0122
a0001c0001t0038g0044
2 HG02083.hp1
HG02083.hp2
HG02083.hp1
HG02083.hp2
intron_variant MODIFIER c.576-19750_576-1972
others(35): Show 
c.576-19750_576-19720dupGCTAGTCCAACCCTCTCATTGTATAC
AGGAG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156737830
chr5:156737908 T
T
G
G
4 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(1): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0042g0065
4 HG01070.hp1
HG01169.hp1
HG02723.hp1
others(1): Show 
HG01070.hp1
HG01169.hp1
HG02723.hp1
HG02922.hp2
intron_variant MODIFIER c.576-19673T>G
c.576-19673T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156737908
chr5:156737927 C
C
A
A
1 a0001c0002t0002g0070
a0001c0002t0002g0070
1 NA18985.hp1
NA18985.hp1
intron_variant MODIFIER c.576-19654C>A
c.576-19654C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156737927
chr5:156737967 A
A
G
G
91 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(88): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0025g0035
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0011g0051
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0028g0034
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
91 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(88): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.576-19614A>G
c.576-19614A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156737967
chr5:156738283 G
G
A
A
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.576-19298G>A
c.576-19298G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156738283
chr5:156738501 G
G
C
C
18 a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
others(15): Show 
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0059g0002
a0004c0007t0020g0012
18 HG00639.hp2
HG01243.hp2
HG01256.hp1
others(15): Show 
HG00639.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02258.hp1
HG02622.hp1
HG02965.hp2
HG02970.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-19080G>C
c.576-19080G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156738501
chr5:156738518 C
C
T
T
1 a0001c0001t0035g0127
a0001c0001t0035g0127
1 HG01169.hp2
HG01169.hp2
intron_variant MODIFIER c.576-19063C>T
c.576-19063C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156738518
chr5:156738705 C
C
A
A
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.576-18876C>A
c.576-18876C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156738705
chr5:156738872 A
A
G
G
1 a0001c0001t0043g0139
a0001c0001t0043g0139
1 HG02630.hp1
HG02630.hp1
intron_variant MODIFIER c.576-18709A>G
c.576-18709A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156738872
chr5:156738897 C
C
T
T
1 a0001c0001t0029g0024
a0001c0001t0029g0024
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.576-18684C>T
c.576-18684C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156738897
chr5:156739424 A
A
G
G
1 a0001c0002t0054g0073
a0001c0002t0054g0073
1 NA18990.hp1
NA18990.hp1
intron_variant MODIFIER c.576-18157A>G
c.576-18157A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156739424
chr5:156739698 C
C
T
T
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.576-17883C>T
c.576-17883C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156739698
chr5:156739728 G
G
A
A
132 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(129): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
132 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(129): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-17853G>A
c.576-17853G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156739728
chr5:156739748 C
C
T
T
33 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(30): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
33 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(30): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02615.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-17833C>T
c.576-17833C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156739748
chr5:156740052 T
T
C
C
85 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(82): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
85 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(82): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.576-17529T>C
c.576-17529T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156740052
chr5:156740153 A
A
G
G
1 a0001c0002t0008g0076
a0001c0002t0008g0076
1 NA19010.hp1
NA19010.hp1
intron_variant MODIFIER c.576-17428A>G
c.576-17428A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156740153
chr5:156740209 C
C
G
G
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.576-17372C>G
c.576-17372C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156740209
chr5:156740505 T
T
C
C
1 a0001c0001t0021g0027
a0001c0001t0021g0027
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.576-17076T>C
c.576-17076T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156740505
chr5:156740889 TAATTGAC
others(9): Show 
TAATTGACCAAAAATAC
T
T
1 a0001c0002t0028g0034
a0001c0002t0028g0034
1 HG02717.hp1
HG02717.hp1
intron_variant MODIFIER c.576-16690_576-1667
others(20): Show 
c.576-16690_576-16675delATTGACCAAAAATACA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156740889
chr5:156740908 C
C
T
T
2 a0001c0001t0046g0121
a0004c0007t0020g0012
a0001c0001t0046g0121
a0004c0007t0020g0012
2 HG01261.hp2
HG01516.hp2
HG01261.hp2
HG01516.hp2
intron_variant MODIFIER c.576-16673C>T
c.576-16673C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156740908
chr5:156740929 G
G
GT
GT
4 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(1): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0042g0065
4 HG01070.hp1
HG01169.hp1
HG02723.hp1
others(1): Show 
HG01070.hp1
HG01169.hp1
HG02723.hp1
HG02922.hp2
intron_variant MODIFIER c.576-16646dupT
c.576-16646dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156740929
chr5:156741081 T
T
A
A
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-16500T>A
c.576-16500T>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156741081
chr5:156741114 C
C
T
T
5 a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
others(2): Show 
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0016g0144
a0001c0002t0052g0111
5 HG01243.hp1
HG02258.hp2
HG03453.hp2
others(2): Show 
HG01243.hp1
HG02258.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp2
intron_variant MODIFIER c.576-16467C>T
c.576-16467C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156741114
chr5:156741399 A
A
T
T
1 a0001c0002t0004g0079
a0001c0002t0004g0079
1 NA20300.hp1
NA20300.hp1
intron_variant MODIFIER c.576-16182A>T
c.576-16182A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156741399
chr5:156741606 G
G
A
A
33 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(30): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
33 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(30): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02615.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-15975G>A
c.576-15975G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156741606
chr5:156741918 C
C
A
A
1 a0001c0002t0058g0089
a0001c0002t0058g0089
1 HG02145.hp2
HG02145.hp2
intron_variant MODIFIER c.576-15663C>A
c.576-15663C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156741918
chr5:156742197 T
T
C
C
1 a0001c0002t0002g0070
a0001c0002t0002g0070
1 NA18985.hp1
NA18985.hp1
intron_variant MODIFIER c.576-15384T>C
c.576-15384T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156742197
chr5:156742336 A
A
G
G
1 a0001c0002t0013g0032
a0001c0002t0013g0032
1 HG03130.hp1
HG03130.hp1
intron_variant MODIFIER c.576-15245A>G
c.576-15245A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156742336
chr5:156742503 C
C
CT
CT
23 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(20): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0133
a0001c0001t0003g0018
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0034g0118
a0001c0002t0002g0062
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0087
a0001c0002t0002g0095
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0008g0076
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0051g0099
a0002c0003t0017g0014
23 HG00558.hp1
HG01081.hp1
HG01256.hp2
others(20): Show 
HG00558.hp1
HG01081.hp1
HG01256.hp2
HG01978.hp1
HG01978.hp2
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02809.hp2
HG03239.hp1
HG03490.hp1
HG03704.hp2
HG04115.hp2
NA18966.hp2
NA18985.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA20300.hp1
intron_variant MODIFIER c.576-15076dupT
c.576-15076dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156742503
chr5:156742586 A
A
G
G
1 a0001c0002t0058g0089
a0001c0002t0058g0089
1 HG02145.hp2
HG02145.hp2
intron_variant MODIFIER c.576-14995A>G
c.576-14995A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156742586
chr5:156742798 TAGGC
TAGGC
T
T
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.576-14769_576-1476
others(8): Show 
c.576-14769_576-14766delGGCA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156742798
chr5:156742809 G
G
T
T
1 a0001c0004t0017g0007
a0001c0004t0017g0007
1 HG02630.hp2
HG02630.hp2
intron_variant MODIFIER c.576-14772G>T
c.576-14772G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156742809
chr5:156742828 G
G
A
A
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-14753G>A
c.576-14753G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156742828
chr5:156743108 CT
CT
C
C
9 a0001c0001t0001g0122
a0001c0001t0012g0010
a0001c0001t0014g0048
others(6): Show 
a0001c0001t0001g0122
a0001c0001t0012g0010
a0001c0001t0014g0048
a0001c0001t0014g0132
a0001c0001t0038g0044
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0028g0034
a0001c0002t0059g0002
9 HG01070.hp1
HG01981.hp1
HG02083.hp1
others(6): Show 
HG01070.hp1
HG01981.hp1
HG02083.hp1
HG02083.hp2
HG02717.hp1
HG02723.hp1
NA18959.hp1
NA19003.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-14453delT
c.576-14453delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156743108
chr5:156743108 CTT
CTT
C
C
125 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(122): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0055
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
125 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(122): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
intron_variant MODIFIER c.576-14454_576-1445
others(6): Show 
c.576-14454_576-14453delTT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156743108
chr5:156743136 A
A
C
C
4 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(1): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0042g0065
4 HG01070.hp1
HG01169.hp1
HG02723.hp1
others(1): Show 
HG01070.hp1
HG01169.hp1
HG02723.hp1
HG02922.hp2
intron_variant MODIFIER c.576-14445A>C
c.576-14445A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156743136
chr5:156743204 T
T
G
G
137 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(134): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
137 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(134): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-14377T>G
c.576-14377T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156743204
chr5:156743322 G
G
A
A
1 a0001c0001t0001g0050
a0001c0001t0001g0050
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.576-14259G>A
c.576-14259G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156743322
chr5:156743740 G
G
A
A
1 a0001c0001t0001g0068
a0001c0001t0001g0068
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.576-13841G>A
c.576-13841G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156743740
chr5:156743826 G
G
A
A
36 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(33): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
36 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(33): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-13755G>A
c.576-13755G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156743826
chr5:156743889 T
T
C
C
1 a0001c0001t0037g0042
a0001c0001t0037g0042
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.576-13692T>C
c.576-13692T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156743889
chr5:156743991 C
C
T
T
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.576-13590C>T
c.576-13590C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156743991
chr5:156744301 T
T
G
G
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.576-13280T>G
c.576-13280T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156744301
chr5:156744340 T
T
C
C
1 a0001c0002t0002g0102
a0001c0002t0002g0102
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.576-13241T>C
c.576-13241T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156744340
chr5:156744681 C
C
T
T
1 a0001c0002t0061g0103
a0001c0002t0061g0103
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.576-12900C>T
c.576-12900C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156744681
chr5:156744775 A
A
C
C
1 a0001c0002t0028g0034
a0001c0002t0028g0034
1 HG02717.hp1
HG02717.hp1
intron_variant MODIFIER c.576-12806A>C
c.576-12806A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156744775
chr5:156744981 G
G
A
A
1 a0001c0002t0002g0087
a0001c0002t0002g0087
1 NA19057.hp1
NA19057.hp1
intron_variant MODIFIER c.576-12600G>A
c.576-12600G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156744981
chr5:156745179 G
G
T
T
1 a0001c0001t0003g0018
a0001c0001t0003g0018
1 HG03490.hp1
HG03490.hp1
intron_variant MODIFIER c.576-12402G>T
c.576-12402G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156745179
chr5:156745407 C
C
T
T
101 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(98): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
101 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(98): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp2
HG01261.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20805.hp1
intron_variant MODIFIER c.576-12174C>T
c.576-12174C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156745407
chr5:156745684 A
A
C
C
1 a0001c0001t0006g0041
a0001c0001t0006g0041
1 HG03579.hp2
HG03579.hp2
intron_variant MODIFIER c.576-11897A>C
c.576-11897A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156745684
chr5:156745713 TAA
TAA
T
T
6 a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
others(3): Show 
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
a0001c0002t0057g0110
6 HG02055.hp1
HG02723.hp2
HG02895.hp1
others(3): Show 
HG02055.hp1
HG02723.hp2
HG02895.hp1
HG03139.hp2
NA18906.hp2
NA19043.hp1
intron_variant MODIFIER c.576-11866_576-1186
others(6): Show 
c.576-11866_576-11865delAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156745713
chr5:156746023 T
T
TA
TA
6 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(3): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0038g0044
a0001c0001t0042g0065
a0001c0002t0058g0089
6 HG01070.hp1
HG01169.hp1
HG02083.hp1
others(3): Show 
HG01070.hp1
HG01169.hp1
HG02083.hp1
HG02145.hp2
HG02723.hp1
HG02922.hp2
intron_variant MODIFIER c.576-11546dupA
c.576-11546dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156746023
chr5:156746081 A
A
G
G
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.576-11500A>G
c.576-11500A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156746081
chr5:156746754 A
A
G
G
9 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(6): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
9 HG01981.hp1
HG02615.hp1
HG02895.hp2
others(6): Show 
HG01981.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-10827A>G
c.576-10827A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156746754
chr5:156746849 A
A
G
G
49 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(46): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0018
a0001c0001t0006g0037
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0016g0144
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0008g0076
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0023g0071
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
49 HG00558.hp1
HG01081.hp1
HG01243.hp1
others(46): Show 
HG00558.hp1
HG01081.hp1
HG01243.hp1
HG01256.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02809.hp2
HG02922.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp2
NA18985.hp1
NA19002.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp1
intron_variant MODIFIER c.576-10732A>G
c.576-10732A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156746849
chr5:156746908 C
C
CA
CA
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-10672dupA
c.576-10672dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156746908
chr5:156746925 TAAAG
TAAAG
T
T
35 a0001c0001t0001g0054
a0001c0001t0006g0066
a0001c0001t0012g0010
others(32): Show 
a0001c0001t0001g0054
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
35 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(32): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-10652_576-1064
others(8): Show 
c.576-10652_576-10649delGAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156746925
chr5:156746964 A
A
G
G
1 a0001c0001t0016g0120
a0001c0001t0016g0120
1 HG01071.hp1
HG01071.hp1
intron_variant MODIFIER c.576-10617A>G
c.576-10617A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156746964
chr5:156747000 G
G
A
A
138 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(135): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0045
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0116
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0027g0011
a0001c0001t0029g0024
a0001c0001t0030g0135
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0002g0061
a0001c0002t0002g0062
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0077
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0109
a0001c0002t0004g0079
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0076
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0078
a0001c0002t0015g0081
a0001c0002t0015g0086
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0023g0071
a0001c0002t0023g0112
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0028g0034
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0053g0085
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0001c0004t0001g0009
a0001c0004t0017g0007
a0001c0006t0018g0145
a0002c0003t0003g0140
a0002c0003t0017g0014
a0003c0005t0001g0148
a0004c0007t0020g0012
138 HG00558.hp1
HG00558.hp2
HG00639.hp1
others(135): Show 
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp1
NA18985.hp2
NA18990.hp1
NA18990.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19066.hp1
NA19066.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-10581G>A
c.576-10581G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156747000
chr5:156747042 G
G
A
A
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.576-10539G>A
c.576-10539G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156747042
chr5:156747062 C
C
T
T
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
10 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA19240.hp1
intron_variant MODIFIER c.576-10519C>T
c.576-10519C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156747062
chr5:156747100 ATG
ATG
A
A
33 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(30): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
33 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(30): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-10480_576-1047
others(6): Show 
c.576-10480_576-10479delTG
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156747100
chr5:156747103 A
A
C
C
33 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(30): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
33 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(30): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-10478A>C
c.576-10478A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156747103
chr5:156747446 C
C
T
T
36 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(33): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0053g0085
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
36 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(33): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-10135C>T
c.576-10135C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156747446
chr5:156748202 C
C
T
T
4 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(1): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0042g0065
4 HG01070.hp1
HG01169.hp1
HG02723.hp1
others(1): Show 
HG01070.hp1
HG01169.hp1
HG02723.hp1
HG02922.hp2
intron_variant MODIFIER c.576-9379C>T
c.576-9379C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156748202
chr5:156748248 A
A
G
G
36 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(33): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
36 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(33): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-9333A>G
c.576-9333A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156748248
chr5:156748484 C
C
G
G
1 a0001c0001t0042g0065
a0001c0001t0042g0065
1 HG02922.hp2
HG02922.hp2
intron_variant MODIFIER c.576-9097C>G
c.576-9097C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156748484
chr5:156748706 C
C
T
T
1 a0001c0001t0047g0003
a0001c0001t0047g0003
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.576-8875C>T
c.576-8875C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156748706
chr5:156748855 T
T
C
C
4 a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0049g0149
others(1): Show 
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0049g0149
a0001c0002t0022g0029
4 HG03041.hp2
HG03130.hp2
NA20129.hp2
others(1): Show 
HG03041.hp2
HG03130.hp2
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.576-8726T>C
c.576-8726T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156748855
chr5:156749006 C
C
T
T
12 a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
others(9): Show 
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0028g0034
a0001c0002t0050g0072
a0001c0002t0057g0110
12 HG02055.hp1
HG02698.hp2
HG02717.hp1
others(9): Show 
HG02055.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02895.hp1
HG03139.hp2
NA18906.hp2
NA18953.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19043.hp1
intron_variant MODIFIER c.576-8575C>T
c.576-8575C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156749006
chr5:156749044 C
C
G
G
3 a0001c0001t0022g0064
a0001c0001t0049g0149
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0001t0049g0149
a0001c0002t0022g0029
3 HG03041.hp2
HG03130.hp2
NA20300.hp2
HG03041.hp2
HG03130.hp2
NA20300.hp2
intron_variant MODIFIER c.576-8537C>G
c.576-8537C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156749044
chr5:156749060 C
C
T
T
2 a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0002g0070
a0001c0002t0002g0107
2 HG02129.hp1
NA18985.hp1
HG02129.hp1
NA18985.hp1
intron_variant MODIFIER c.576-8521C>T
c.576-8521C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156749060
chr5:156749448 G
G
T
T
4 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(1): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0042g0065
4 HG01070.hp1
HG01169.hp1
HG02723.hp1
others(1): Show 
HG01070.hp1
HG01169.hp1
HG02723.hp1
HG02922.hp2
intron_variant MODIFIER c.576-8133G>T
c.576-8133G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156749448
chr5:156749578 G
G
A
A
1 a0001c0002t0060g0074
a0001c0002t0060g0074
1 HG02965.hp1
HG02965.hp1
intron_variant MODIFIER c.576-8003G>A
c.576-8003G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156749578
chr5:156750021 T
T
C
C
1 a0001c0006t0018g0145
a0001c0006t0018g0145
1 HG02257.hp1
HG02257.hp1
intron_variant MODIFIER c.576-7560T>C
c.576-7560T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156750021
chr5:156750139 C
C
T
T
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.576-7442C>T
c.576-7442C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156750139
chr5:156750323 T
T
G
G
4 a0001c0001t0006g0038
a0001c0001t0016g0120
a0001c0001t0029g0024
others(1): Show 
a0001c0001t0006g0038
a0001c0001t0016g0120
a0001c0001t0029g0024
a0001c0002t0028g0034
4 HG01071.hp1
HG02717.hp1
HG02809.hp1
others(1): Show 
HG01071.hp1
HG02717.hp1
HG02809.hp1
HG03098.hp2
intron_variant MODIFIER c.576-7258T>G
c.576-7258T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156750323
chr5:156750542 G
G
A
A
2 a0001c0002t0002g0062
a0001c0002t0002g0077
a0001c0002t0002g0062
a0001c0002t0002g0077
2 HG00558.hp1
NA18966.hp2
HG00558.hp1
NA18966.hp2
intron_variant MODIFIER c.576-7039G>A
c.576-7039G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156750542
chr5:156751263 T
T
G
G
1 a0002c0003t0003g0140
a0002c0003t0003g0140
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.576-6318T>G
c.576-6318T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156751263
chr5:156751308 CA
CA
C
C
32 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(29): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
32 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(29): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-6268delA
c.576-6268delA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156751308
chr5:156751529 C
C
T
T
1 a0001c0001t0009g0067
a0001c0001t0009g0067
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.576-6052C>T
c.576-6052C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156751529
chr5:156752185 C
C
G
G
1 a0001c0001t0033g0141
a0001c0001t0033g0141
1 HG03225.hp2
HG03225.hp2
intron_variant MODIFIER c.576-5396C>G
c.576-5396C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156752185
chr5:156752286 A
A
G
G
1 a0001c0001t0003g0018
a0001c0001t0003g0018
1 HG03490.hp1
HG03490.hp1
intron_variant MODIFIER c.576-5295A>G
c.576-5295A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156752286
chr5:156752321 G
G
A
A
1 a0001c0001t0049g0149
a0001c0001t0049g0149
1 HG03130.hp2
HG03130.hp2
intron_variant MODIFIER c.576-5260G>A
c.576-5260G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156752321
chr5:156752403 T
T
C
C
1 a0001c0002t0004g0079
a0001c0002t0004g0079
1 NA20300.hp1
NA20300.hp1
intron_variant MODIFIER c.576-5178T>C
c.576-5178T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156752403
chr5:156752419 G
G
A
A
1 a0001c0001t0025g0035
a0001c0001t0025g0035
1 NA20129.hp2
NA20129.hp2
intron_variant MODIFIER c.576-5162G>A
c.576-5162G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156752419
chr5:156752442 G
G
C
C
22 a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
others(19): Show 
a0001c0001t0006g0066
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0004t0001g0009
a0001c0004t0017g0007
a0004c0007t0020g0012
22 HG00639.hp2
HG01243.hp2
HG01256.hp1
others(19): Show 
HG00639.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02129.hp1
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02630.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03471.hp2
NA18959.hp1
NA18985.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-5139G>C
c.576-5139G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156752442
chr5:156752581 C
C
T
T
36 a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
others(33): Show 
a0001c0001t0006g0066
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
36 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(33): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-5000C>T
c.576-5000C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156752581
chr5:156752858 G
G
A
A
1 a0001c0001t0001g0133
a0001c0001t0001g0133
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.576-4723G>A
c.576-4723G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156752858
chr5:156753318 G
G
A
A
3 a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0055g0091
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0055g0091
3 HG00558.hp2
HG02056.hp2
NA18964.hp2
HG00558.hp2
HG02056.hp2
NA18964.hp2
intron_variant MODIFIER c.576-4263G>A
c.576-4263G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156753318
chr5:156753712 C
C
T
T
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02615.hp2
HG02615.hp2
intron_variant MODIFIER c.576-3869C>T
c.576-3869C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156753712
chr5:156753732 T
T
C
C
3 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0002t0002g0061
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0002t0002g0061
3 HG02257.hp2
HG03139.hp1
HG03486.hp2
HG02257.hp2
HG03139.hp1
HG03486.hp2
intron_variant MODIFIER c.576-3849T>C
c.576-3849T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156753732
chr5:156753756 C
C
T
T
1 a0001c0002t0002g0075
a0001c0002t0002g0075
1 NA19009.hp2
NA19009.hp2
intron_variant MODIFIER c.576-3825C>T
c.576-3825C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156753756
chr5:156753795 T
T
C
C
11 a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
others(8): Show 
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0051g0099
11 HG02055.hp1
HG02698.hp2
HG02723.hp2
others(8): Show 
HG02055.hp1
HG02698.hp2
HG02723.hp2
HG02895.hp1
HG03139.hp2
NA18953.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19043.hp1
NA19066.hp2
intron_variant MODIFIER c.576-3786T>C
c.576-3786T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156753795
chr5:156753924 C
C
T
T
4 a0001c0001t0001g0015
a0001c0001t0001g0122
a0001c0002t0002g0075
others(1): Show 
a0001c0001t0001g0015
a0001c0001t0001g0122
a0001c0002t0002g0075
a0001c0002t0015g0078
4 HG02083.hp2
HG02129.hp2
HG02155.hp1
others(1): Show 
HG02083.hp2
HG02129.hp2
HG02155.hp1
NA19009.hp2
intron_variant MODIFIER c.576-3657C>T
c.576-3657C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156753924
chr5:156754135 C
C
T
T
1 a0001c0002t0002g0080
a0001c0002t0002g0080
1 HG02040.hp2
HG02040.hp2
intron_variant MODIFIER c.576-3446C>T
c.576-3446C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156754135
chr5:156754267 C
C
G
G
2 a0001c0001t0049g0149
a0001c0002t0060g0074
a0001c0001t0049g0149
a0001c0002t0060g0074
2 HG02965.hp1
HG03130.hp2
HG02965.hp1
HG03130.hp2
intron_variant MODIFIER c.576-3314C>G
c.576-3314C>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156754267
chr5:156754298 T
T
G
G
25 a0001c0001t0006g0066
a0001c0001t0014g0048
a0001c0001t0014g0055
others(22): Show 
a0001c0001t0006g0066
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
25 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(22): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-3283T>G
c.576-3283T>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156754298
chr5:156754309 A
A
G
G
1 a0001c0002t0058g0089
a0001c0002t0058g0089
1 HG02145.hp2
HG02145.hp2
intron_variant MODIFIER c.576-3272A>G
c.576-3272A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156754309
chr5:156754328 A
A
G
G
2 a0001c0001t0049g0149
a0001c0002t0060g0074
a0001c0001t0049g0149
a0001c0002t0060g0074
2 HG02965.hp1
HG03130.hp2
HG02965.hp1
HG03130.hp2
intron_variant MODIFIER c.576-3253A>G
c.576-3253A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156754328
chr5:156754355 T
T
C
C
12 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(9): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0057g0110
12 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(9): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA18906.hp2
NA19240.hp1
intron_variant MODIFIER c.576-3226T>C
c.576-3226T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156754355
chr5:156754614 T
T
C
C
15 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(12): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0057g0110
15 HG01981.hp1
HG02615.hp1
HG02630.hp1
others(12): Show 
HG01981.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
NA18906.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
intron_variant MODIFIER c.576-2967T>C
c.576-2967T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156754614
chr5:156754759 A
A
T
T
2 a0001c0001t0001g0015
a0001c0002t0015g0078
a0001c0001t0001g0015
a0001c0002t0015g0078
2 HG02129.hp2
HG02155.hp1
HG02129.hp2
HG02155.hp1
intron_variant MODIFIER c.576-2822A>T
c.576-2822A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156754759
chr5:156754939 T
T
C
C
10 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(7): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0041g0028
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0057g0110
10 HG01981.hp1
HG02615.hp1
HG02895.hp2
others(7): Show 
HG01981.hp1
HG02615.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
NA18906.hp2
NA19240.hp1
intron_variant MODIFIER c.576-2642T>C
c.576-2642T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156754939
chr5:156755037 G
G
A
A
23 a0001c0001t0006g0066
a0001c0001t0014g0048
a0001c0001t0014g0055
others(20): Show 
a0001c0001t0006g0066
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
23 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(20): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-2544G>A
c.576-2544G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156755037
chr5:156755189 A
A
G
G
49 a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
others(46): Show 
a0001c0001t0006g0066
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
49 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(46): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02055.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp2
NA19043.hp1
NA19066.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-2392A>G
c.576-2392A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156755189
chr5:156755288 G
G
A
A
1 a0001c0002t0024g0063
a0001c0002t0024g0063
1 NA19003.hp1
NA19003.hp1
intron_variant MODIFIER c.576-2293G>A
c.576-2293G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156755288
chr5:156755310 G
G
C
C
1 a0001c0002t0023g0112
a0001c0002t0023g0112
1 HG03098.hp1
HG03098.hp1
intron_variant MODIFIER c.576-2271G>C
c.576-2271G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156755310
chr5:156755352 G
G
C
C
2 a0001c0001t0022g0064
a0001c0002t0022g0029
a0001c0001t0022g0064
a0001c0002t0022g0029
2 HG03041.hp2
NA20300.hp2
HG03041.hp2
NA20300.hp2
intron_variant MODIFIER c.576-2229G>C
c.576-2229G>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156755352
chr5:156755362 G
G
A
A
1 a0001c0002t0002g0080
a0001c0002t0002g0080
1 HG02040.hp2
HG02040.hp2
intron_variant MODIFIER c.576-2219G>A
c.576-2219G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156755362
chr5:156755439 C
C
A
A
22 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(19): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
22 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(19): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-2142C>A
c.576-2142C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156755439
chr5:156755451 C
C
A
A
22 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(19): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
22 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(19): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-2130C>A
c.576-2130C>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156755451
chr5:156755653 T
T
C
C
1 a0001c0002t0002g0102
a0001c0002t0002g0102
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.576-1928T>C
c.576-1928T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156755653
chr5:156755726 C
C
T
T
17 a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
others(14): Show 
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
17 HG00639.hp2
HG01243.hp2
HG01256.hp1
others(14): Show 
HG00639.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02965.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-1855C>T
c.576-1855C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156755726
chr5:156755807 T
T
C
C
48 a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
others(45): Show 
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0026g0016
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
48 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(45): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02055.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18953.hp1
NA18959.hp1
NA18990.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp2
NA19043.hp1
NA19066.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-1774T>C
c.576-1774T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156755807
chr5:156755842 G
G
A
A
2 a0001c0001t0003g0056
a0001c0002t0004g0113
a0001c0001t0003g0056
a0001c0002t0004g0113
2 HG01070.hp2
HG01071.hp2
HG01070.hp2
HG01071.hp2
intron_variant MODIFIER c.576-1739G>A
c.576-1739G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156755842
chr5:156756031 G
G
A
A
22 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(19): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
22 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(19): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-1550G>A
c.576-1550G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156756031
chr5:156756112 A
A
T
T
1 a0001c0002t0002g0087
a0001c0002t0002g0087
1 NA19057.hp1
NA19057.hp1
intron_variant MODIFIER c.576-1469A>T
c.576-1469A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156756112
chr5:156756187 G
G
A
A
3 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
3 HG01070.hp1
HG01169.hp1
HG02723.hp1
HG01070.hp1
HG01169.hp1
HG02723.hp1
intron_variant MODIFIER c.576-1394G>A
c.576-1394G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156756187
chr5:156756629 T
T
C
C
1 a0001c0001t0001g0050
a0001c0001t0001g0050
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.576-952T>C
c.576-952T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156756629
chr5:156756671 A
A
T
T
2 a0001c0002t0002g0062
a0001c0002t0002g0077
a0001c0002t0002g0062
a0001c0002t0002g0077
2 HG00558.hp1
NA18966.hp2
HG00558.hp1
NA18966.hp2
intron_variant MODIFIER c.576-910A>T
c.576-910A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156756671
chr5:156756682 C
C
T
T
1 a0001c0002t0044g0026
a0001c0002t0044g0026
1 HG03471.hp2
HG03471.hp2
intron_variant MODIFIER c.576-899C>T
c.576-899C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156756682
chr5:156756795 A
A
G
G
11 a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
others(8): Show 
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0026g0016
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0050g0072
a0001c0002t0051g0099
11 HG02055.hp1
HG02698.hp2
HG02723.hp2
others(8): Show 
HG02055.hp1
HG02698.hp2
HG02723.hp2
HG02895.hp1
HG03139.hp2
NA18953.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19043.hp1
NA19066.hp2
intron_variant MODIFIER c.576-786A>G
c.576-786A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156756795
chr5:156756842 T
T
TC
TC
24 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(21): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
24 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(21): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-736dupC
c.576-736dupC
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156756842
chr5:156756865 C
C
T
T
1 a0001c0002t0005g0097
a0001c0002t0005g0097
1 NA20805.hp2
NA20805.hp2
intron_variant MODIFIER c.576-716C>T
c.576-716C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156756865
chr5:156756890 G
G
A
A
24 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(21): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
24 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(21): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-691G>A
c.576-691G>A
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156756890
chr5:156756936 A
A
T
T
2 a0001c0001t0049g0149
a0001c0002t0060g0074
a0001c0001t0049g0149
a0001c0002t0060g0074
2 HG02965.hp1
HG03130.hp2
HG02965.hp1
HG03130.hp2
intron_variant MODIFIER c.576-645A>T
c.576-645A>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156756936
chr5:156757243 C
C
T
T
1 a0001c0001t0003g0119
a0001c0001t0003g0119
1 HG02735.hp2
HG02735.hp2
intron_variant MODIFIER c.576-338C>T
c.576-338C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156757243
chr5:156757263 C
C
CA
CA
48 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0050
others(45): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0050
a0001c0001t0001g0052
a0001c0001t0001g0116
a0001c0001t0003g0013
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0136
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0134
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0142
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0016g0144
a0001c0001t0018g0039
a0001c0001t0030g0135
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0002t0002g0061
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0005g0097
a0001c0002t0008g0115
a0001c0002t0010g0005
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0015g0081
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0028g0034
a0001c0002t0054g0073
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0006t0018g0145
a0002c0003t0003g0140
a0003c0005t0001g0148
48 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(45): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01261.hp1
HG01516.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02615.hp1
HG02698.hp1
HG02717.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp2
HG03486.hp2
HG03704.hp1
HG04115.hp1
NA18522.hp1
NA18522.hp2
NA18953.hp1
NA18964.hp2
NA18966.hp1
NA18985.hp2
NA18990.hp1
NA19003.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19066.hp1
NA19240.hp1
NA20805.hp1
NA20805.hp2
intron_variant MODIFIER c.576-291dupA
c.576-291dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156757263
chr5:156757263 C
C
CAA
CAA
51 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(48): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0068
a0001c0001t0001g0117
a0001c0001t0001g0122
a0001c0001t0001g0133
a0001c0001t0001g0143
a0001c0001t0001g0147
a0001c0001t0001g0150
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0009g0067
a0001c0001t0012g0010
a0001c0001t0027g0011
a0001c0001t0031g0021
a0001c0001t0032g0020
a0001c0001t0033g0141
a0001c0001t0034g0118
a0001c0001t0035g0127
a0001c0001t0036g0043
a0001c0001t0037g0042
a0001c0001t0043g0139
a0001c0002t0002g0069
a0001c0002t0002g0070
a0001c0002t0002g0075
a0001c0002t0002g0080
a0001c0002t0002g0087
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0098
a0001c0002t0002g0102
a0001c0002t0002g0109
a0001c0002t0004g0106
a0001c0002t0005g0082
a0001c0002t0008g0006
a0001c0002t0008g0076
a0001c0002t0008g0101
a0001c0002t0008g0105
a0001c0002t0015g0078
a0001c0002t0015g0086
a0001c0002t0050g0072
a0001c0002t0053g0085
a0001c0002t0057g0110
a0001c0002t0061g0103
a0001c0004t0001g0009
a0001c0004t0017g0007
a0002c0003t0017g0014
51 HG01081.hp1
HG01109.hp2
HG01169.hp2
others(48): Show 
HG01081.hp1
HG01109.hp2
HG01169.hp2
HG01256.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp2
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18959.hp2
NA18964.hp1
NA18985.hp1
NA19002.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
intron_variant MODIFIER c.576-292_576-291dup
others(2): Show 
c.576-292_576-291dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156757263
chr5:156757263 C
C
CAAA
CAAA
7 a0001c0001t0001g0146
a0001c0001t0025g0035
a0001c0002t0002g0062
others(4): Show 
a0001c0001t0001g0146
a0001c0001t0025g0035
a0001c0002t0002g0062
a0001c0002t0002g0077
a0001c0002t0002g0107
a0001c0002t0004g0079
a0001c0002t0023g0071
7 HG00558.hp1
HG01981.hp2
HG02129.hp1
others(4): Show 
HG00558.hp1
HG01981.hp2
HG02129.hp1
HG02145.hp1
NA18966.hp2
NA20129.hp2
NA20300.hp1
intron_variant MODIFIER c.576-293_576-291dup
others(3): Show 
c.576-293_576-291dupAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156757263
chr5:156757263 CAAAAA
CAAAAA
C
C
5 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(2): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0021g0027
a0001c0002t0058g0089
5 HG01070.hp1
HG01169.hp1
HG02145.hp2
others(2): Show 
HG01070.hp1
HG01169.hp1
HG02145.hp2
HG02723.hp1
HG02965.hp2
intron_variant MODIFIER c.576-295_576-291del
others(5): Show 
c.576-295_576-291delAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156757263
chr5:156757263 CAAAAAA
CAAAAAA
C
C
15 a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0045g0137
others(12): Show 
a0001c0001t0020g0017
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0059g0002
a0004c0007t0020g0012
15 HG00639.hp2
HG01243.hp2
HG01256.hp1
others(12): Show 
HG00639.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02258.hp1
HG02622.hp1
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-296_576-291del
others(6): Show 
c.576-296_576-291delAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156757263
chr5:156757263 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
C
C
1 a0001c0001t0006g0041
a0001c0001t0006g0041
1 HG03579.hp2
HG03579.hp2
intron_variant MODIFIER c.576-303_576-291del
others(13): Show 
c.576-303_576-291delAAAAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156757263
chr5:156757263 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
C
C
1 a0001c0001t0003g0018
a0001c0001t0003g0018
1 HG03490.hp1
HG03490.hp1
intron_variant MODIFIER c.576-305_576-291del
others(15): Show 
c.576-305_576-291delAAAAAAAAAAAAAAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156757263
chr5:156757304 T
T
C
C
2 a0001c0001t0049g0149
a0001c0002t0060g0074
a0001c0001t0049g0149
a0001c0002t0060g0074
2 HG02965.hp1
HG03130.hp2
HG02965.hp1
HG03130.hp2
intron_variant MODIFIER c.576-277T>C
c.576-277T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156757304
chr5:156757446 G
G
GT
GT
37 a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
others(34): Show 
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0025g0035
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0057g0110
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
37 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(34): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp2
NA18906.hp2
NA18959.hp1
NA19003.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.576-133dupT
c.576-133dupT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chr5 156757446
chr5:156757497 G
G
T
T
7 a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
others(4): Show 
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0029g0024
a0001c0002t0052g0111
7 HG02258.hp2
HG02809.hp1
HG02970.hp1
others(4): Show 
HG02258.hp2
HG02809.hp1
HG02970.hp1
HG03098.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp2
intron_variant MODIFIER c.576-84G>T
c.576-84G>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 7/8 chr5 156757497
chr5:156758223 A
A
G
G
2 a0001c0001t0036g0043
a0001c0002t0053g0085
a0001c0001t0036g0043
a0001c0002t0053g0085
2 HG03453.hp1
NA18906.hp1
HG03453.hp1
NA18906.hp1
intron_variant MODIFIER c.699+519A>G
c.699+519A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 8/8 chr5 156758223
chr5:156758337 A
A
C
C
3 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
3 HG01070.hp1
HG01169.hp1
HG02723.hp1
HG01070.hp1
HG01169.hp1
HG02723.hp1
intron_variant MODIFIER c.699+633A>C
c.699+633A>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 8/8 chr5 156758337
chr5:156758383 CTG
CTG
C
C
21 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(18): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
21 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(18): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.699+685_699+686del
others(2): Show 
c.699+685_699+686delGT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chr5 156758383
chr5:156758389 GT
GT
G
G
56 a0001c0001t0001g0117
a0001c0001t0003g0013
a0001c0001t0003g0018
others(53): Show 
a0001c0001t0001g0117
a0001c0001t0003g0013
a0001c0001t0003g0018
a0001c0001t0003g0022
a0001c0001t0003g0056
a0001c0001t0003g0119
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0006g0037
a0001c0001t0006g0038
a0001c0001t0006g0040
a0001c0001t0006g0041
a0001c0001t0006g0066
a0001c0001t0007g0123
a0001c0001t0007g0124
a0001c0001t0007g0126
a0001c0001t0007g0138
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0001t0012g0010
a0001c0001t0012g0059
a0001c0001t0012g0060
a0001c0001t0013g0057
a0001c0001t0026g0016
a0001c0001t0029g0024
a0001c0001t0038g0044
a0001c0001t0039g0004
a0001c0001t0040g0131
a0001c0001t0041g0028
a0001c0001t0042g0065
a0001c0001t0043g0139
a0001c0002t0004g0088
a0001c0002t0004g0092
a0001c0002t0004g0104
a0001c0002t0004g0106
a0001c0002t0004g0113
a0001c0002t0004g0114
a0001c0002t0008g0101
a0001c0002t0010g0001
a0001c0002t0010g0005
a0001c0002t0010g0094
a0001c0002t0010g0108
a0001c0002t0013g0030
a0001c0002t0013g0032
a0001c0002t0019g0031
a0001c0002t0019g0033
a0001c0002t0023g0112
a0001c0002t0050g0072
a0001c0002t0051g0099
a0001c0002t0052g0111
a0001c0002t0055g0091
a0001c0002t0056g0096
a0001c0002t0057g0110
a0002c0003t0003g0140
56 HG00558.hp2
HG00639.hp1
HG01070.hp2
others(53): Show 
HG00558.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01261.hp1
HG01891.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02155.hp2
HG02258.hp2
HG02559.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03579.hp2
HG03704.hp1
HG04115.hp1
NA18906.hp2
NA18953.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18990.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp1
NA19066.hp1
NA19066.hp2
NA19240.hp1
NA20805.hp1
intron_variant MODIFIER c.699+698delT
c.699+698delT
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chr5 156758389
chr5:156758580 T
T
C
C
24 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(21): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0022g0064
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0022g0029
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
24 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(21): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.700-637T>C
c.700-637T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 8/8 chr5 156758580
chr5:156758723 A
A
G
G
23 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(20): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0025g0035
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
23 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(20): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.700-494A>G
c.700-494A>G
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 8/8 chr5 156758723
chr5:156758785 G
G
GA
GA
5 a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
others(2): Show 
a0001c0001t0009g0036
a0001c0001t0009g0049
a0001c0001t0009g0067
a0001c0001t0009g0142
a0001c0002t0050g0072
5 HG02055.hp1
HG02723.hp2
HG02895.hp1
others(2): Show 
HG02055.hp1
HG02723.hp2
HG02895.hp1
HG03139.hp2
NA19043.hp1
intron_variant MODIFIER c.700-421dupA
c.700-421dupA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chr5 156758785
chr5:156758785 G
G
GAA
GAA
22 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(19): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0001t0049g0149
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0001c0002t0060g0074
a0004c0007t0020g0012
22 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(19): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.700-422_700-421dup
others(2): Show 
c.700-422_700-421dupAA
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chr5 156758785
chr5:156758814 C
C
T
T
1 a0001c0002t0015g0081
a0001c0002t0015g0081
1 NA19003.hp2
NA19003.hp2
intron_variant MODIFIER c.700-403C>T
c.700-403C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 8/8 chr5 156758814
chr5:156759076 C
C
T
T
20 a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
others(17): Show 
a0001c0001t0014g0048
a0001c0001t0014g0055
a0001c0001t0014g0132
a0001c0001t0020g0017
a0001c0001t0021g0027
a0001c0001t0021g0046
a0001c0001t0045g0137
a0001c0001t0046g0121
a0001c0001t0047g0003
a0001c0001t0048g0053
a0001c0002t0011g0051
a0001c0002t0011g0083
a0001c0002t0011g0084
a0001c0002t0011g0090
a0001c0002t0024g0063
a0001c0002t0024g0100
a0001c0002t0044g0026
a0001c0002t0058g0089
a0001c0002t0059g0002
a0004c0007t0020g0012
20 HG00639.hp2
HG01070.hp1
HG01169.hp1
others(17): Show 
HG00639.hp2
HG01070.hp1
HG01169.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01516.hp2
HG01891.hp1
HG02071.hp2
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02723.hp1
HG02965.hp2
HG03471.hp2
NA18959.hp1
NA19003.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.700-141C>T
c.700-141C>T
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 8/8 chr5 156759076
chr5:156759198 T
T
C
C
2 a0001c0001t0016g0120
a0001c0001t0016g0144
a0001c0001t0016g0120
a0001c0001t0016g0144
2 HG01071.hp1
HG01243.hp1
HG01071.hp1
HG01243.hp1
intron_variant MODIFIER c.700-19T>C
c.700-19T>C
SGCD ENSG00000170624.14 transcript ENST00000337851.9 protein_coding 8/8 chr5 156759198

  • 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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